Varaico: Literature-Extracted Genetic Variants

Gene:HNF1A
Variant:p.Q486*
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HNF1A

NM_000545.8:p.Q486*

Associated Papers

Reduced penetrance of MODY-associated HNF1A/HNF4A variants but not GCK variants in clinically unselected cohorts.

Mirshahi UL et al.

American Journal of Human Genetics, 2022

36257325 (PubMed )
Supplement: mmc2.xlsx › MODY_Probands

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

Molecular genetic testing of patients with monogenic diabetes and hyperinsulinism.

Bennett JT et al.

Molecular Genetics and Metabolism, 2015

The HNF-1alpha-SNARE connection.

Yamagata K et al.

Diabetes, Obesity & Metabolism, 2007

Alternate mRNA processing of the hepatocyte nuclear factor genes and its role in monogenic diabetes.

Harries LW

Expert Review of Endocrinology & Metabolism, 2006

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

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

Ellard S

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."