Varaico: Literature-Extracted Genetic Variants

Gene:HNF4A
Variant:p.R245S
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HNF4A

NM_175914.5:p.R245S

Associated Papers

MODY patients carrying mutation in syndromic diabetes genes. An Italian single-center experience.

Marucci A et al.

Acta Diabetologica, 2023

A Review of Functional Characterization of Single Amino Acid Change Mutations in HNF Transcription Factors in MODY Pathogenesis.

Çubuk H et al.

The Protein Journal, 2021

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

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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."