Varaico: Literature-Extracted Genetic Variants

Gene:HNF4A
Variant:p.D39Splc
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HNF4A

NM_000457.6:p.D39Splc

Associated Papers

Gene Panel-Based Genotyping of 279 Turkish Maturity-Onset Diabetes of the Young Patients from Eastern Anatolia.

Yarali O et al.

Molecular Syndromology, 2025

Decoding type 2 diabetes mellitus genetic risk variants in Pakistani Pashtun ethnic population using the nascent whole exome sequencing and MassARRAY genotyping: A case-control association study.

Jan A et al.

Plos One, 2023

Glimepiride treatment in a patient with type A insulin resistance syndrome due to a novel heterozygous missense mutation in the insulin receptor gene.

Huang Z et al.

Journal of Diabetes Investigation, 2018

Genes involved in the regulation of intestinal permeability and their role in ulcerative colitis.

Prager M et al.

Journal of Digestive Diseases, 2015

Uncovering the molecular pathogenesis of congenital hyperinsulinism by panel gene sequencing in 32 Chinese patients.

Fan ZC et al.

Molecular Genetics & Genomic Medicine, 2015

Clinical and molecular characterization of maturity onset-diabetes of the young caused by hepatocyte nuclear factor-4 alpha mutation: red flags for prediction of the diagnosis.

Mohamed S et al.

Annals of Saudi Medicine, 0

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