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Article

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

BMC medical genomics - 12 Aug 2016

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

Abstract excerpt

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 (PheWAS) exploring the association between a selected list of functional stop-gain genetic variants (variation resulting...

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Identifiers

PMID: 27535653
DOI: 10.1186/s12920-016-0191-8
PMCID: PMC4989894

Genes

LPL
DPT
KCNH2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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