Varaico: Literature-Extracted Genetic Variants

Gene:HNF1A
Variant:p.H147R
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HNF1A

NM_000545.8:p.H147R

Associated Papers

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

Diagnosis of HNF-1alpha mutations on a PNA zip-code microarray by single base extension.

Song JY et al.

Nucleic Acids Research, 2005

Genetic modifiers of the age at diagnosis of diabetes (MODY3) in carriers of hepatocyte nuclear factor-1alpha mutations map to chromosomes 5p15, 9q22, and 14q24.

Kim SH et al.

Diabetes, 2003

Diabetes mutations delineate an atypical POU domain in HNF-1alpha.

Chi YI et al.

Molecular Cell, 2002

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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."