Varaico: Literature-Extracted Genetic Variants

Gene:HNF1A
Variant:p.M154I
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HNF1A

NM_000545.8:p.M154I

Associated Papers

Functional Analyses of HNF1A-MODY Variants Refine the Interpretation of Identified Sequence Variants.

Malikova J et al.

The Journal of Clinical Endocrinology and Metabolism, 2020

High frequency of pathogenic and rare sequence variants in diabetes-related genes among Russian patients with diabetes in pregnancy.

Zubkova N et al.

Acta Diabetologica, 2019

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

Identification of seven novel nucleotide variants in the hepatocyte nuclear factor-1alpha (TCF1) promoter region in MODY patients.

Godart F et al.

Human Mutation, 2000

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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."