Varaico: Literature-Extracted Genetic Variants

Gene:HNF1A
Variant:p.Q243E
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HNF1A

NM_000545.8:p.Q243E

Associated Papers

Genetic variants underlying spermatogenic arrests in men with non-obstructive azoospermia.

Ozturk S

Cell Cycle (georgetown, Tex.), 2023

Hepatocyte nuclear factor-α genetic mutation in a Chinese pedigree with maturity-onset diabetes of the young (MODY3).

Zhang M et al.

Diabetes/metabolism Research and Reviews, 2015

26436572 (PubMed )
Supplement: supplement_1.pdf

The HNF-1alpha-SNARE connection.

Yamagata K et al.

Diabetes, Obesity & Metabolism, 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

Genetic and clinical characteristics of maturity-onset diabetes of the young in Chinese patients.

Xu JY et al.

European Journal of Human Genetics : Ejhg, 2005

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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."