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Rare coding variant...
Rare coding variants and X-linked loci associated with age at menarche
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Lunetta, Kathryn L. (author)
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Day, Felix R. (author)
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Sulem, Patrick (author)
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show more...
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Ruth, Katherine S. (author)
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Tung, Joyce Y. (author)
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Hinds, David A. (author)
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Esko, Tonu (author)
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Elks, Cathy E. (author)
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Altmaier, Elisabeth (author)
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He, Chunyan (author)
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Huffman, Jennifer E. (author)
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Mihailov, Evelin (author)
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Porcu, Eleonora (author)
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Robino, Antonietta (author)
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Rose, Lynda M. (author)
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Schick, Ursula M. (author)
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Stolk, Lisette (author)
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Teumer, Alexander (author)
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Thompson, Deborah J. (author)
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Traglia, Michela (author)
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Wang, Carol A. (author)
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Yerges-Armstrong, Laura M. (author)
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Antoniou, Antonis C. (author)
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Barbieri, Caterina (author)
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Coviello, Andrea D. (author)
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Cucca, Francesco (author)
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Demerath, Ellen W. (author)
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Dunning, Alison M. (author)
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Gandin, Ilaria (author)
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Grove, Megan L. (author)
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Gudbjartsson, Daniel F. (author)
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Hocking, Lynne J. (author)
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Hofman, Albert (author)
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Huang, Jinyan (author)
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Jackson, Rebecca D. (author)
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Karasik, David (author)
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Kriebel, Jennifer (author)
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Lange, Ethan M. (author)
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Lange, Leslie A. (author)
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Langenberg, Claudia (author)
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Li, Xin (author)
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Luan, Jian'an (author)
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Maegi, Reedik (author)
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Morrison, Alanna C. (author)
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Padmanabhan, Sandosh (author)
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Pirie, Ailith (author)
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Polasek, Ozren (author)
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Porteous, David (author)
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Reiner, Alex P. (author)
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Rivadeneira, Fernando (author)
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Rudan, Igor (author)
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Sala, Cinzia F. (author)
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Schlessinger, David (author)
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Scott, Robert A. (author)
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Stoeckl, Doris (author)
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Visser, Jenny A. (author)
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Voelker, Uwe (author)
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Vozzi, Diego (author)
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Wilson, James G. (author)
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Zygmunt, Marek (author)
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Boerwinkle, Eric (author)
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Buring, Julie E. (author)
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Crisponi, Laura (author)
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Easton, Douglas F. (author)
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Hayward, Caroline (author)
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Hu, Frank B. (author)
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Liu, Simin (author)
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Metspalu, Andres (author)
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Pennell, Craig E. (author)
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Ridker, Paul M. (author)
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Strauch, Konstantin (author)
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Streeten, Elizabeth A. (author)
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Toniolo, Daniela (author)
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Uitterlinden, Andre G. (author)
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Ulivi, Sheila (author)
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Voelzke, Henry (author)
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Wareham, Nicholas J. (author)
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Wellons, Melissa (author)
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Franceschini, Nora (author)
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Chasman, Daniel I. (author)
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Thorsteinsdottir, Unnur (author)
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Murray, Anna (author)
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Stefansson, Kari (author)
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Murabito, Joanne M. (author)
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Ong, Ken K. (author)
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Perry, John R. B. (author)
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Forouhi, Nita G. (author)
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Kerrison, Nicola D. (author)
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Sharp, Stephen J. (author)
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Sims, Matt (author)
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Barroso, Ines (author)
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Deloukas, Panos (author)
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McCarthy, Mark I. (author)
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Arriola, Larraitz (author)
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Balkau, Beverley (author)
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Barricarte, Aurelio (author)
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Boeing, Heiner (author)
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- Franks, Paul W. (author)
- Umeå University,Lund University,Lunds universitet,Umeå universitet,Medicin,Genetisk och molekylär epidemiologi,Forskargrupper vid Lunds universitet,Genetic and Molecular Epidemiology,Lund University Research Groups
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Gonzalez, Carlos (author)
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Grioni, Sara (author)
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Kaaks, Rudolf (author)
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Key, Timothy J. (author)
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Navarro, Carmen (author)
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- Nilsson, Peter (author)
- Lund University,Lunds universitet,Internmedicin - epidemiologi,Forskargrupper vid Lunds universitet,Internal Medicine - Epidemiology,Lund University Research Groups
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Overvad, Kim (author)
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Palli, Domenico (author)
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Panico, Salvatore (author)
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Ramon Quiros, J. (author)
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- Rolandsson, Olov (author)
- Umeå universitet,Allmänmedicin
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Sacerdote, Carlotta (author)
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Sanchez, Maria-Jose (author)
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Slimani, Nadia (author)
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Tjonneland, Anne (author)
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Tumino, Rosario (author)
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van der A, Daphne L. (author)
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van der Schouw, Yvonne T. (author)
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Riboli, Elio (author)
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Smith, Blair H. (author)
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Campbell, Archie (author)
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Deary, Ian J. (author)
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McIntosh, Andrew M. (author)
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(creator_code:org_t)
- 2015-08-04
- 2015
- English.
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In: Nature Communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 6
- Related links:
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https://doi.org/10.1...
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https://umu.diva-por... (primary) (Raw object)
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https://www.nature.c...
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http://dx.doi.org/10... (free)
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https://urn.kb.se/re...
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https://doi.org/10.1...
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https://lup.lub.lu.s...
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Abstract
Subject headings
Close
- More than 100 loci have been identified for age at menarche by genome-wide association studies; however, collectively these explain only similar to 3% of the trait variance. Here we test two overlooked sources of variation in 192,974 European ancestry women: low-frequency proteincoding variants and X-chromosome variants. Five missense/nonsense variants (in ALMS1/LAMB2/TNRC6A/TACR3/PRKAG1) are associated with age at menarche (minor allele frequencies 0.08-4.6%; effect sizes 0.08-1.25 years per allele; P<5 x 10(-8)). In addition, we identify common X-chromosome loci at IGSF1 (rs762080, P = 9.4 x 10(-13)) and FAAH2 (rs5914101, P = 4.9 x 10(-10)). Highlighted genes implicate cellular energy homeostasis, post-transcriptional gene silencing and fatty-acid amide signalling. A frequently reported mutation in TACR3 for idiopathic hypogonatrophic hypogonadism (p.W275X) is associated with 1.25-year-later menarche (P = 2.8 x 10(-11)), illustrating the utility of population studies to estimate the penetrance of reportedly pathogenic mutations. Collectively, these novel variants explain similar to 0.5% variance, indicating that these overlooked sources of variation do not substantially explain the 'missing heritability' of this complex trait.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Medical Genetics (hsv//eng)
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Endokrinologi och diabetes (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Endocrinology and Diabetes (hsv//eng)
Publication and Content Type
- ref (subject category)
- art (subject category)
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- By the author/editor
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Lunetta, Kathryn ...
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Day, Felix R.
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Sulem, Patrick
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Ruth, Katherine ...
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Tung, Joyce Y.
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Hinds, David A.
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show more...
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Esko, Tonu
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Elks, Cathy E.
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Altmaier, Elisab ...
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He, Chunyan
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Huffman, Jennife ...
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Mihailov, Evelin
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Porcu, Eleonora
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Robino, Antoniet ...
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Rose, Lynda M.
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Schick, Ursula M ...
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Stolk, Lisette
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Teumer, Alexande ...
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Thompson, Debora ...
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Traglia, Michela
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Wang, Carol A.
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Yerges-Armstrong ...
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Antoniou, Antoni ...
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Barbieri, Cateri ...
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Coviello, Andrea ...
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Cucca, Francesco
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Demerath, Ellen ...
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Dunning, Alison ...
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Gandin, Ilaria
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Grove, Megan L.
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Gudbjartsson, Da ...
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Hocking, Lynne J ...
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Hofman, Albert
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Huang, Jinyan
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Jackson, Rebecca ...
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Karasik, David
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Kriebel, Jennife ...
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Lange, Ethan M.
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Lange, Leslie A.
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Langenberg, Clau ...
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Li, Xin
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Luan, Jian'an
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Maegi, Reedik
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Morrison, Alanna ...
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Padmanabhan, San ...
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Pirie, Ailith
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Polasek, Ozren
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Porteous, David
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Reiner, Alex P.
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Rivadeneira, Fer ...
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Rudan, Igor
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Sala, Cinzia F.
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Schlessinger, Da ...
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Scott, Robert A.
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Stoeckl, Doris
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Visser, Jenny A.
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Voelker, Uwe
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Vozzi, Diego
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Wilson, James G.
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Zygmunt, Marek
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Boerwinkle, Eric
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Buring, Julie E.
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Crisponi, Laura
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Easton, Douglas ...
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Hayward, Carolin ...
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Hu, Frank B.
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Liu, Simin
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Metspalu, Andres
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Pennell, Craig E ...
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Ridker, Paul M.
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Strauch, Konstan ...
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Streeten, Elizab ...
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Toniolo, Daniela
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Uitterlinden, An ...
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Ulivi, Sheila
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Voelzke, Henry
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Wareham, Nichola ...
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Wellons, Melissa
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Franceschini, No ...
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Chasman, Daniel ...
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Thorsteinsdottir ...
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Murray, Anna
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Stefansson, Kari
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Murabito, Joanne ...
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Ong, Ken K.
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Perry, John R. B ...
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Forouhi, Nita G.
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Kerrison, Nicola ...
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Sharp, Stephen J ...
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Sims, Matt
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Barroso, Ines
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Deloukas, Panos
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McCarthy, Mark I ...
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Arriola, Larrait ...
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Balkau, Beverley
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Barricarte, Aure ...
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Boeing, Heiner
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Franks, Paul W.
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Gonzalez, Carlos
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Grioni, Sara
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Kaaks, Rudolf
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Key, Timothy J.
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Navarro, Carmen
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Nilsson, Peter
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Overvad, Kim
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Palli, Domenico
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Panico, Salvator ...
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Ramon Quiros, J.
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Rolandsson, Olov
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Sacerdote, Carlo ...
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Sanchez, Maria-J ...
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Slimani, Nadia
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Tjonneland, Anne
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Tumino, Rosario
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van der A, Daphn ...
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van der Schouw, ...
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Riboli, Elio
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Smith, Blair H.
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Campbell, Archie
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Deary, Ian J.
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McIntosh, Andrew ...
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- About the subject
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Basic Medicine
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and Medical Genetics
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Clinical Medicin ...
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and Endocrinology an ...
- Articles in the publication
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Nature Communica ...
- By the university
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Umeå University
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Lund University