Varaico: Literature-Extracted Genetic Variants

Gene:HNF1A
Variant:p.K101*
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HNF1A

NM_000545.8:p.K101*

Associated Papers

Molecular characterization and re-interpretation of HNF1A variants identified in Indian MODY subjects towards precision medicine.

Kavitha B et al.

Frontiers in Endocrinology, 2023

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

Li LM et al.

Frontiers in Endocrinology, 2022

Down's Syndrome and Triple Negative Breast Cancer: A Rare Occurrence of Distinctive Clinical Relationship.

Dey N et al.

International Journal of Molecular Sciences, 2017

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

Mutations in the human genes encoding the transcription factors of the hepatocyte nuclear factor (HNF)1 and HNF4 families: functional and pathological consequences.

Ryffel GU

Journal of Molecular Endocrinology, 2001

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."