Varaico: Literature-Extracted Genetic Variants

Gene:HNF1A
Variant:p.V462I
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HNF1A

NM_000545.8:p.V462I

Associated Papers

The contribution of functional HNF1A variants and polygenic susceptibility to risk of type 2 diabetes in ancestrally diverse populations.

Stalbow LA et al.

Diabetologia, 2023

36216889 (PubMed )
Supplement: 125_2022_5806_MOESM2_ESM.xlsx › ESM_Table_1

Endophenotype effect sizes support variant pathogenicity in monogenic disease susceptibility genes.

Halford JL et al.

Nature Communications, 2022

36042188 (PubMed )
Supplement: 41467_2022_32009_MOESM4_ESM.xlsx › Supplementary_Data_2

Combination of ENaC and CFTR mutations may predispose to cystic fibrosis-like disease.

Fajac I et al.

The European Respiratory Journal, 2009

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