Varaico: Literature-Extracted Genetic Variants

Gene:HNF1A
Variant:p.A14A
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HNF1A

NM_000545.8:p.A14A

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

Three novel mutations in MODY and its phenotype in three different Czech families.

Bazalová Z et al.

Diabetes Research and Clinical Practice, 2010

Prevalence of HNF1A (MODY3) mutations in a Norwegian population (the HUNT2 Study).

Eide SA et al.

Diabetic Medicine : a Journal of the British Diabetic Association, 2008

Hepatocyte nuclear factor 1 alpha (HNF-1 alpha) mutations in maturity-onset diabetes of the young.

Ellard S

Human Mutation, 2000

Proposed mechanism for a novel insertion/deletion frameshift mutation (I414G415ATCG-->CCA) in the hepatocyte nuclear factor 1 alpha (HNF-1 alpha) gene which causes maturity-onset diabetes of the young (MODY).

Ellard S et al.

Human Mutation, 2000

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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."