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The impact of low-f...
The impact of low-frequency and rare variants on lipid levels.
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Surakka, Ida (author)
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Horikoshi, Momoko (author)
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Mägi, Reedik (author)
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show more...
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Sarin, Antti-Pekka (author)
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Mahajan, Anubha (author)
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Lagou, Vasiliki (author)
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Marullo, Letizia (author)
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Ferreira, Teresa (author)
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Miraglio, Benjamin (author)
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Timonen, Sanna (author)
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Kettunen, Johannes (author)
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Pirinen, Matti (author)
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Karjalainen, Juha (author)
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Thorleifsson, Gudmar (author)
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- Hägg, Sara (author)
- Karolinska Institutet,Uppsala universitet,Molekylär epidemiologi,Science for Life Laboratory, SciLifeLab
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Hottenga, Jouke-Jan (author)
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Isaacs, Aaron (author)
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- Ladenvall, Claes (author)
- Lund University,Lunds universitet,Genomik, diabetes och endokrinologi,Forskargrupper vid Lunds universitet,Genomics, Diabetes and Endocrinology,Lund University Research Groups
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Beekman, Marian (author)
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Esko, Tõnu (author)
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Ried, Janina S (author)
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Nelson, Christopher P (author)
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Willenborg, Christina (author)
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- Gustafsson, Stefan (author)
- Uppsala universitet,Molekylär epidemiologi,Science for Life Laboratory, SciLifeLab
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Westra, Harm-Jan (author)
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Blades, Matthew (author)
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de Craen, Anton J M (author)
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de Geus, Eco J (author)
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Deelen, Joris (author)
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Grallert, Harald (author)
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- Hamsten, Anders (author)
- Karolinska Institutet
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Havulinna, Aki S (author)
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Hengstenberg, Christian (author)
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Houwing-Duistermaat, Jeanine J (author)
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Hyppönen, Elina (author)
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Karssen, Lennart C (author)
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Lehtimäki, Terho (author)
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- Lyssenko, Valeriya (author)
- Lund University,Lunds universitet,Genomik, diabetes och endokrinologi,Forskargrupper vid Lunds universitet,Genomics, Diabetes and Endocrinology,Lund University Research Groups
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- Magnusson, Patrik K E (author)
- Karolinska Institutet
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Mihailov, Evelin (author)
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Müller-Nurasyid, Martina (author)
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Mpindi, John-Patrick (author)
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- Lind, Lars (author)
- Karolinska Institutet,Uppsala universitet,Kardiovaskulär epidemiologi
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Penninx, Brenda W J H (author)
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Perola, Markus (author)
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Pers, Tune H (author)
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Peters, Annette (author)
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Rung, Johan (author)
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Smit, Johannes H (author)
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Steinthorsdottir, Valgerdur (author)
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Tobin, Martin D (author)
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Tsernikova, Natalia (author)
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van Leeuwen, Elisabeth M (author)
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Viikari, Jorma S (author)
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Willems, Sara M (author)
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Willemsen, Gonneke (author)
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Schunkert, Heribert (author)
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Erdmann, Jeanette (author)
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Samani, Nilesh J (author)
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Kaprio, Jaakko (author)
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Lind, Lars (author)
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Gieger, Christian (author)
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Metspalu, Andres (author)
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Slagboom, P Eline (author)
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- Groop, Leif (author)
- Lund University,Lunds universitet,Genomik, diabetes och endokrinologi,Forskargrupper vid Lunds universitet,Genomics, Diabetes and Endocrinology,Lund University Research Groups
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van Duijn, Cornelia M (author)
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Eriksson, Johan G (author)
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Jula, Antti (author)
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Salomaa, Veikko (author)
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Boomsma, Dorret I (author)
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Power, Christine (author)
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Raitakari, Olli T (author)
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- Ingelsson, Erik (author)
- Uppsala universitet,Molekylär epidemiologi,Science for Life Laboratory, SciLifeLab
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Järvelin, Marjo-Riitta (author)
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Thorsteinsdottir, Unnur (author)
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Franke, Lude (author)
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Ikonen, Elina (author)
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Kallioniemi, Olli (author)
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Pietiäinen, Vilja (author)
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Lindgren, Cecilia M (author)
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Stefansson, Kari (author)
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Palotie, Aarno (author)
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McCarthy, Mark I (author)
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Morris, Andrew P (author)
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Prokopenko, Inga (author)
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Ripatti, Samuli (author)
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Karjalainen, Julia (author)
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(creator_code:org_t)
- 2015-05-11
- 2015
- English.
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In: Nature Genetics. - : Springer Science and Business Media LLC. - 1546-1718 .- 1061-4036. ; 47:6, s. 589-597
- Related links:
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http://www.ncbi.nlm....
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http://dx.doi.org/10...
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https://europepmc.or...
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https://lup.lub.lu.s...
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https://doi.org/10.1...
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https://urn.kb.se/re...
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http://kipublication...
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Abstract
Subject headings
Close
- Using a genome-wide screen of 9.6 million genetic variants achieved through 1000 Genomes Project imputation in 62,166 samples, we identify association to lipid traits in 93 loci, including 79 previously identified loci with new lead SNPs and 10 new loci, 15 loci with a low-frequency lead SNP and 10 loci with a missense lead SNP, and 2 loci with an accumulation of rare variants. In six loci, SNPs with established function in lipid genetics (CELSR2, GCKR, LIPC and APOE) or candidate missense mutations with predicted damaging function (CD300LG and TM6SF2) explained the locus associations. The low-frequency variants increased the proportion of variance explained, particularly for low-density lipoprotein cholesterol and total cholesterol. Altogether, our results highlight the impact of low-frequency variants in complex traits and show that imputation offers a cost-effective alternative to resequencing.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Endokrinologi och diabetes (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Endocrinology and Diabetes (hsv//eng)
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Medical Genetics (hsv//eng)
Publication and Content Type
- art (subject category)
- ref (subject category)
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To the university's database
- By the author/editor
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Surakka, Ida
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Horikoshi, Momok ...
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Mägi, Reedik
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Sarin, Antti-Pek ...
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Mahajan, Anubha
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Lagou, Vasiliki
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show more...
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Marullo, Letizia
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Ferreira, Teresa
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Miraglio, Benjam ...
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Timonen, Sanna
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Kettunen, Johann ...
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Pirinen, Matti
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Karjalainen, Juh ...
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Thorleifsson, Gu ...
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Hägg, Sara
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Hottenga, Jouke- ...
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Isaacs, Aaron
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Ladenvall, Claes
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Beekman, Marian
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Esko, Tõnu
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Ried, Janina S
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Nelson, Christop ...
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Willenborg, Chri ...
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Gustafsson, Stef ...
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Westra, Harm-Jan
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Blades, Matthew
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de Craen, Anton ...
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de Geus, Eco J
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Deelen, Joris
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Grallert, Harald
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Hamsten, Anders
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Havulinna, Aki S
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Hengstenberg, Ch ...
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Houwing-Duisterm ...
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Hyppönen, Elina
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Karssen, Lennart ...
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Lehtimäki, Terho
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Lyssenko, Valeri ...
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Magnusson, Patri ...
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Mihailov, Evelin
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Müller-Nurasyid, ...
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Mpindi, John-Pat ...
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Lind, Lars
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Penninx, Brenda ...
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Perola, Markus
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Pers, Tune H
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Peters, Annette
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Rung, Johan
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Smit, Johannes H
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Steinthorsdottir ...
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Tobin, Martin D
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Tsernikova, Nata ...
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van Leeuwen, Eli ...
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Viikari, Jorma S
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Willems, Sara M
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Willemsen, Gonne ...
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Schunkert, Herib ...
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Erdmann, Jeanett ...
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Samani, Nilesh J
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Kaprio, Jaakko
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Gieger, Christia ...
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Metspalu, Andres
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Slagboom, P Elin ...
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Groop, Leif
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van Duijn, Corne ...
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Eriksson, Johan ...
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Jula, Antti
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Salomaa, Veikko
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Boomsma, Dorret ...
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Power, Christine
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Raitakari, Olli ...
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Ingelsson, Erik
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Järvelin, Marjo- ...
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Thorsteinsdottir ...
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Franke, Lude
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Ikonen, Elina
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Kallioniemi, Oll ...
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Pietiäinen, Vilj ...
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Lindgren, Cecili ...
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Stefansson, Kari
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Palotie, Aarno
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McCarthy, Mark I
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Morris, Andrew P
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Prokopenko, Inga
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Ripatti, Samuli
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Karjalainen, Jul ...
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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 Clinical Medicin ...
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and Endocrinology an ...
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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
- Articles in the publication
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Nature Genetics
- By the university
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Lund University
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Uppsala University
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Karolinska Institutet