Varaico: Literature-Extracted Genetic Variants

Gene:HNF1A
Variant:p.A15V
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HNF1A

NM_000545.8:p.A15V

Associated Papers

Molecular and Clinical Profiles of Pediatric Monogenic Diabetes Subtypes: Comprehensive Genetic Analysis of 138 Patients.

Zhou Q et al.

The Journal of Clinical Endocrinology and Metabolism, 2025

Reduced penetrance of MODY-associated HNF1A/HNF4A variants but not GCK variants in clinically unselected cohorts.

Mirshahi UL et al.

American Journal of Human Genetics, 2022

36257325 (PubMed )
Supplement: mmc2.xlsx › MODY_Probands

Syndromic Monogenic Diabetes Genes Should Be Tested in Patients With a Clinical Suspicion of Maturity-Onset Diabetes of the Young.

Colclough K et al.

Diabetes, 2022

Mutations in the genes encoding the transcription factors hepatocyte nuclear factor 1 alpha and 4 alpha in maturity-onset diabetes of the young and hyperinsulinemic hypoglycemia.

Colclough K et al.

Human Mutation, 2013

Prevalence of HNF1A (MODY3) mutations in a Norwegian population (the HUNT2 Study).

Eide SA et al.

Diabetic Medicine : a Journal of the British Diabetic Association, 2008

Hepatocyte nuclear factor 1 alpha (HNF-1 alpha) mutations in maturity-onset diabetes of the young.

Ellard S

Human Mutation, 2000

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."