Varaico: Literature-Extracted Genetic Variants

Gene:HNF1A
Variant:p.V133M
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HNF1A

NM_000545.8:p.V133M

Associated Papers

HNF1A:From Monogenic Diabetes to Type 2 Diabetes and Gestational Diabetes Mellitus.

Li LM et al.

Frontiers in Endocrinology, 2022

35299962 (PubMed )
Supplement: DataSheet_1.pdf

Novel insights into genetics and clinics of the HNF1A-MODY.

Valkovicova T et al.

Endocrine Regulations, 2019

The HNF-1alpha-SNARE connection.

Yamagata K et al.

Diabetes, Obesity & Metabolism, 2007

Mutations in GCK and HNF-1alpha explain the majority of cases with clinical diagnosis of MODY in Spain.

Estalella I et al.

Clinical Endocrinology, 2007

Mutations in the genes encoding the transcription factors hepatocyte nuclear factor 1 alpha (HNF1A) and 4 alpha (HNF4A) in maturity-onset diabetes of the young.

Ellard S et al.

Human Mutation, 2006

Molecular and biochemical analysis of the MODY syndromes.

Winter WE

Pediatric Diabetes, 2000

Genetic and clinical characterisation of maturity-onset diabetes of the young in Spanish families.

Costa A et al.

European Journal of Endocrinology, 2000

Three new mutations in the hepatocyte nuclear factor-1alpha gene in Japanese subjects with diabetes mellitus: clinical features and functional characterization.

Yoshiuchi I et al.

Diabetologia, 1999

An automated fluorescent single-strand conformation polymorphism technique for screening mutations in the hepatocyte nuclear factor-1alpha gene (maturity-onset diabetes of the young).

Boutin P et al.

Diabetes, 1997

Differential effects of HNF-1α mutations associated with familial young-onset diabetes on target gene regulation.

Galán M et al.

Molecular Medicine (cambridge, Mass.), 0

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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."