Varaico: Literature-Extracted Genetic Variants

Gene:HNF1A
Variant:p.L57L
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HNF1A

NM_000545.8:p.L57L

Associated Papers

Molecular mechanism of HNF-1A-mediated HNF4A gene regulation and promoter-driven HNF4A-MODY diabetes.

Kind L et al.

Jci Insight, 2024

38855865 (PubMed )
Supplement: jciinsight-9-175278-s041.pdf

Maturity Onset Diabetes of the Young (MODY) in Tunisia: Low frequencies of GCK and HNF1A mutations.

Ben Khelifa S et al.

Gene, 2018

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

Mutations in the small heterodimer partner gene increase morbidity risk in Japanese type 2 diabetes patients.

Enya M et al.

Human Mutation, 2008

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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."