Varaico: Literature-Extracted Genetic Variants

Gene:HNF1A
Variant:p.G20A
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HNF1A

NM_000545.8:p.G20A

Associated Papers

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

Li LM et al.

Frontiers in Endocrinology, 2022

35299962 (PubMed )
Supplement: DataSheet_1.pdf

Liver adenomatosis in patients with hepatocyte nuclear factor-1 alpha maturity onset diabetes of the young (HNF1A-MODY): Clinical, radiological and pathological characteristics in a French series.

Haddouche A et al.

Journal of Diabetes, 2020

Performance of protein disorder prediction programs on amino acid substitutions.

Ali H et al.

Human Mutation, 2014

24753228 (PubMed )
Supplement: supplement_1.pdf

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

Diabetes mellitus due to misfolding of a beta-cell transcription factor: stereospecific frustration of a Schellman motif in HNF-1alpha.

Narayana N et al.

Journal of Molecular Biology, 2006

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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."