Varaico: Literature-Extracted Genetic Variants

Gene:HNF1A
Variant:p.Q130*
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HNF1A

NM_000545.8:p.Q130*

Associated Papers

HNF1A:From Monogenic Diabetes to Type 2 Diabetes and Gestational Diabetes Mellitus.

Li LM et al.

Frontiers in Endocrinology, 2022

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

Genetic and clinical characteristics of patients with HNF1A gene variations from the German-Austrian DPV database.

Awa WL et al.

European Journal of Endocrinology, 2011

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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."