Varaico: Literature-Extracted Genetic Variants

Gene:HNF1A
Variant:p.V133L
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HNF1A

NM_000545.8:p.V133L

Associated Papers

Targeted gene panel analysis of Japanese patients with maturity-onset diabetes of the young-like diabetes mellitus: Roles of inactivating variants in the ABCC8 and insulin resistance genes.

Yorifuji T et al.

Journal of Diabetes Investigation, 2023

Clinical whole exome sequencing in early onset diabetes patients.

Kwak SH et al.

Diabetes Research and Clinical Practice, 2016

The type and the position of HNF1A mutation modulate age at diagnosis of diabetes in patients with maturity-onset diabetes of the young (MODY)-3.

Bellanné-Chantelot C et al.

Diabetes, 2008

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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."