eMERGE Phenome-Wide Association Study (PheWAS) identifies clinical associations and pleiotropy for stop-gain variants

BACKGROUND: We explored premature stop-gain variants to test the hypothesis that variants, which are likely to have a consequence on protein structure and function, will reveal important insights with respect to the phenotypes associated with them. We performed a phenome-wide association study (PheW...

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Detalhes bibliográficos
Publicado no:BMC Med Genomics
Main Authors: Verma, Anurag, Verma, Shefali S., Pendergrass, Sarah A., Crawford, Dana C., Crosslin, David R., Kuivaniemi, Helena, Bush, William S., Bradford, Yuki, Kullo, Iftikhar, Bielinski, Suzette J., Li, Rongling, Denny, Joshua C., Peissig, Peggy, Hebbring, Scott, De Andrade, Mariza, Ritchie, Marylyn D., Tromp, Gerard
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2016
Assuntos:
Research
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4989894/
https://ncbi.nlm.nih.gov/pubmed/27535653
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12920-016-0191-8
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