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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Dades bibliogràfiques
Publicat a:BMC Med Genomics
Autors principals: 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
Format: Artigo
Idioma:Inglês
Publicat: BioMed Central 2016
Matèries:
Research
Accés en línia: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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