eMERGE Phenome-Wide Association Study (PheWAS) identifies clinical associations and pleiotropy for s...
eMERGE Phenome-Wide Association Study (PheWAS) identifies clinical associations and pleiotropy for stop-gain variants
About this item
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Author / Creator
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 and Tromp, Gerard
Publisher
England: BioMed Central Ltd
Journal title
Language
English
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Publication information
Publisher
England: BioMed Central Ltd
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More information
Scope and Contents
Contents
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 funct...
Alternative Titles
Full title
eMERGE Phenome-Wide Association Study (PheWAS) identifies clinical associations and pleiotropy for stop-gain variants
Authors, Artists and Contributors
Author / Creator
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Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4989894
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4989894
Other Identifiers
ISSN
1755-8794
E-ISSN
1755-8794
DOI
10.1186/s12920-016-0191-8
