Varaico: Literature-Extracted Genetic Variants

Gene:HNF1A
Variant:p.E48fs
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HNF1A

NM_000545.8:p.E48fs

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

Somatic HNF1A mutations in the malignant transformation of hepatocellular adenomas: a retrospective analysis of data from MSK-IMPACT and TCGA.

Hechtman JF et al.

Human Pathology, 2019

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

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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."