Varaico: Literature-Extracted Genetic Variants

Gene:HNF4A
Variant:p.I228V
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HNF4A

NM_175914.5:p.I228V

Associated Papers

Update on mutations in glucokinase (GCK), which cause maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemic hypoglycemia.

Osbak KK et al.

Human Mutation, 2009

Identification of eight novel glucokinase mutations in Italian children with maturity-onset diabetes of the young.

Mantovani V et al.

Human Mutation, 2003

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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."