Varaico: Literature-Extracted Genetic Variants

Gene:HNF4A
Variant:p.A265T
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HNF4A

NM_175914.5:p.A265T

Associated Papers

Gene Panel Sequencing of Patients With Monogenic Diabetes Brings to Light Genes Typically Associated With Syndromic Presentations.

Saint-Martin C et al.

Diabetes, 2022

Targeted sequencing identifies novel variants in common and rare MODY genes.

de Santana LS et al.

Molecular Genetics & Genomic Medicine, 2019

31595705 (PubMed )
Supplement: MGG3-7-e962-s003.docx

Maturity-onset diabetes of the young (MODY) in Brazil: Establishment of a national registry and appraisal of available genetic and clinical data.

Giuffrida FMA et al.

Diabetes Research and Clinical Practice, 2017

Update on mutations in glucokinase (GCK), which cause maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemic hypoglycemia.

Osbak KK et al.

Human Mutation, 2009

Glucokinase gene mutations: structural and genotype-phenotype analyses in MODY children from South Italy.

Tinto N et al.

Plos One, 2008

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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."