Publications:

Mutations in CEP57 cause mosaic variegated aneuploidy syndrome.

Nature Genetics

Snape, Katie K; Hanks, Sandra S; Ruark, Elise E; Barros-Núñez, Patricio P; Elliott, Anna A; Murray, Anne A; Lane, Andrew H AH; Shannon, Nora N; Callier, Patrick P; Chitayat, David D; Clayton-Smith, Jill J; Fitzpatrick, David R DR; Gisselsson, David D; Jacquemont, Sebastien S; Asakura-Hay, Keiko K; Micale, Mark A MA; Tolmie, John J; Turnpenny, Peter D PD; Wright, Michael M; Douglas, Jenny J; Rahman, Nazneen N

Publication Date: 2011-06

Variant appearance in text: PC: 315G>C

PubMed Link: 21552266

Variant Present in the following documents:

• NIHMS35167-supplement-1.pdf

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Unifying candidate gene and GWAS Approaches in Asthma.

Plos One

Michel, Sven S; Liang, Liming L; Depner, Martin M; Klopp, Norman N; Ruether, Andreas A; Kumar, Ashish A; Schedel, Michaela M; Vogelberg, Christian C; von Mutius, Erika E; von Berg, Andrea A; Bufe, Albrecht A; Rietschel, Ernst E; Heinzmann, Andrea A; Laub, Otto O; Simma, Burkhard B; Frischer, Thomas T; Genuneit, Jon J; Gut, Ivo G IG; Schreiber, Stefan S; Lathrop, Mark M; Illig, Thomas T; Kabesch, Michael M

Publication Date: 2010-11-12

Variant appearance in text: PC: Val105Val

PubMed Link: 21103062

Variant Present in the following documents:

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Interactions between glutathione S-transferase P1, tumor necrosis factor, and traffic-related air pollution for development of childhood allergic disease.

Environmental Health Perspectives

Melén, Erik E; Nyberg, Fredrik F; Lindgren, Cecilia M CM; Berglind, Niklas N; Zucchelli, Marco M; Nordling, Emma E; Hallberg, Jenny J; Svartengren, Magnus M; Morgenstern, Ralf R; Kere, Juha J; Bellander, Tom T; Wickman, Magnus M; Pershagen, Göran G

Publication Date: 2008-08

Variant appearance in text: PC: Val105Val

PubMed Link: 18709160

Variant Present in the following documents:

• ehp0116-001077.pdf

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Lack of association of glutathione S-transferase P1 Ile105Val polymorphism with aspirin-intolerant asthma.

The Korean Journal Of Internal Medicine

Oh, Jung-Mi JM; Kim, Seung-Hyun SH; Suh, Chang-Hee CH; Nahm, Dong-Ho DH; Park, Hae-Sim HS; Lee, Young-Mok YM; Lee, June-Hyuk JH; Park, Choon-Sik CS; Shin, Hyung-Doo HD

Publication Date: 2005-09

Variant appearance in text: PC: Val105Val

PubMed Link: 16295782

Variant Present in the following documents:

• Main text

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