Varaico: Literature-Extracted Genetic Variants

Gene:HNF1A
Variant:p.A501T
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HNF1A

NM_000545.8:p.A501T

Associated Papers

Genetic Structure of Hereditary Forms of Diabetes Mellitus in Russia.

Minniakhmetov IR et al.

International Journal of Molecular Sciences, 2025

Identification of monogenic variants in more than ten per cent of children without type 1 diabetes-related autoantibodies at diagnosis in the Finnish Pediatric Diabetes Register.

Harsunen M et al.

Diabetologia, 2023

Evaluation in Monogenic Diabetes of the Impact of GCK, HNF1A, and HNF4A Variants on Splicing through the Combined Use of In Silico Tools and Minigene Assays.

Bouvet D et al.

Human Mutation, 2023

Syndromic Monogenic Diabetes Genes Should Be Tested in Patients With a Clinical Suspicion of Maturity-Onset Diabetes of the Young.

Colclough K et al.

Diabetes, 2022

Maturity Onset Diabetes of the Young-New Approaches for Disease Modelling.

Skoczek D et al.

International Journal of Molecular Sciences, 2021

34299172 (PubMed )
Supplement: ijms-22-07553-s001.zip › ijms-1265050-supplementary.xlsx › Arkusz1

Maturity onset diabetes of the young in India - a distinctive mutation pattern identified through targeted next-generation sequencing.

Chapla A et al.

Clinical Endocrinology, 2015

The spectrum of HNF1A gene mutations in Greek patients with MODY3: relative frequency and identification of seven novel germline mutations.

Tatsi C et al.

Pediatric Diabetes, 2013

Mutations in the genes encoding the transcription factors hepatocyte nuclear factor 1 alpha (HNF1A) and 4 alpha (HNF4A) in maturity-onset diabetes of the young.

Ellard S et al.

Human Mutation, 2006

Etiological investigation of diabetes in young adults presenting with apparent type 2 diabetes.

Owen KR et al.

Diabetes Care, 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."