Search: (WFRF:(Huffman Jennifer E.)) pers:(Luan Jian'an) conttype:(refereed)
> (2015) >
Rare coding variant...
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Lunetta, Kathryn L.
(author)
Rare coding variants and X-linked loci associated with age at menarche
- Article/chapterEnglish2015
Publisher, publication year, extent ...
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2015-08-04
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Springer Science and Business Media LLC,2015
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electronicrdacarrier
Numbers
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LIBRIS-ID:oai:DiVA.org:umu-109458
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https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-109458URI
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https://doi.org/10.1038/ncomms8756DOI
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https://lup.lub.lu.se/record/7968995URI
Supplementary language notes
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Language:English
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Summary in:English
Part of subdatabase
Classification
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Subject category:ref swepub-contenttype
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Subject category:art swepub-publicationtype
Notes
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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.
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Day, Felix R.
(author)
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Sulem, Patrick
(author)
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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.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(Swepub:lu)med-plf
(author)
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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, PeterLund University,Lunds universitet,Internmedicin - epidemiologi,Forskargrupper vid Lunds universitet,Internal Medicine - Epidemiology,Lund University Research Groups(Swepub:lu)medf-pni
(author)
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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, OlovUmeå universitet,Allmänmedicin(Swepub:umu)olro0005
(author)
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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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Umeå universitetMedicin
(creator_code:org_t)
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In:Nature Communications: Springer Science and Business Media LLC62041-1723
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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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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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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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Antoniou, Antoni ...
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Lange, Ethan M.
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Sala, Cinzia F.
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Easton, Douglas ...
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Uitterlinden, An ...
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Voelzke, Henry
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Wareham, Nichola ...
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Thorsteinsdottir ...
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Murray, Anna
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Stefansson, Kari
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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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Barroso, Ines
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Deloukas, Panos
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Barricarte, Aure ...
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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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Ramon Quiros, J.
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Rolandsson, Olov
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