Varaico: Literature-Extracted Genetic Variants

Gene:HNF1A
Variant:p.E96D
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HNF1A

NM_000545.8:p.E96D

Associated Papers

Maturity onset diabetes of the young due to HNF1A variants in Croatia.

Pavić T et al.

Biochemia Medica, 2018

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

Half of clinically defined maturity-onset diabetes of the young patients in Denmark do not have mutations in HNF4A, GCK, and TCF1.

Johansen A et al.

The Journal of Clinical Endocrinology and Metabolism, 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."