Varaico: Literature-Extracted Genetic Variants

Gene:HNF1A
Variant:p.S498R
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HNF1A

NM_000545.8:p.S498R

Associated Papers

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

Mutations in GCK and HNF-1alpha explain the majority of cases with clinical diagnosis of MODY in Spain.

Estalella I et al.

Clinical Endocrinology, 2007

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

UKPDS 31: Hepatocyte nuclear factor-1alpha (the MODY3 gene) mutations in late onset Type II diabetic patients in the United Kingdom. United Kingdom prospective diabetes study.

Cox RD et al.

Diabetologia, 1999

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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."