Varaico: Literature-Extracted Genetic Variants

Gene:HNF1B
Variant:p.H132P
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HNF1B

NM_000458.4:p.H132P

Associated Papers

MODY5 and 17q12 Microdeletion Syndrome: Phenotype Variability, Prenatal and Postnatal Counseling.

Fontana P et al.

Genes, 2025

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

Genetic basis of early-onset, maturity-onset diabetes of the young-like diabetes in Japan and features of patients without mutations in the major MODY genes: Dominance of maternal inheritance.

Yorifuji T et al.

Pediatric Diabetes, 2018

Screening of diabetes of youth for hepatocyte nuclear factor 1 mutations: clinical phenotype of HNF1β-related maturity-onset diabetes of the young and HNF1α-related maturity-onset diabetes of the young in Japanese.

Horikawa Y et al.

Diabetic Medicine : a Journal of the British Diabetic Association, 2014

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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."