Varaico: Literature-Extracted Genetic Variants

Gene:HNF4A
Variant:p.A45T
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HNF4A

NM_175914.5:p.A45T

Associated Papers

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

Beta-cell dysfunction in late-onset diabetic subjects carrying homozygous mutation in transcription factors NeuroD1 and Pax4.

Kanatsuka A et al.

Metabolism: Clinical and Experimental, 2002

Lack of association of the Ala45Thr variant in the BETA2/NEUROD1 with type 1 diabetes in Japanese.

Awata T et al.

Diabetes Research and Clinical Practice, 2000

No evidence of linkage or diabetes-associated mutations in the transcription factors BETA2/NEUROD1 and PAX4 in Type II diabetes in France.

Dupont S et al.

Diabetologia, 1999

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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."