Varaico: Literature-Extracted Genetic Variants

Gene:HNF1A
Variant:p.M1T
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HNF1A

NM_000545.8:p.M1T

Associated Papers

Two case reports of maturity-onset diabetes of the young type 3 caused by the hepatocyte nuclear factor 1α gene mutation.

Wen Q et al.

Open Medicine (warsaw, Poland), 2023

Evaluation in Monogenic Diabetes of the Impact of GCK, HNF1A, and HNF4A Variants on Splicing through the Combined Use of In Silico Tools and Minigene Assays.

Bouvet D et al.

Human Mutation, 2023

40225161 (PubMed )
Supplement: 6661013.f3.pdf

Association of Vitamin D Receptor Gene Polymorphisms With the Evolution of MODY Diabetes: Study in Tunisian Patients.

Guesmi A et al.

Biological Research for Nursing, 2021

GATA1 mutations in red cell disorders.

Ling T et al.

Iubmb Life, 2020

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."