Varaico: Literature-Extracted Genetic Variants

Gene:HNF1A
Variant:p.A251T
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HNF1A

NM_000545.8:p.A251T

Associated Papers

Investigating the pathogenicity of the recessive HNF1A p.A251T variant in monogenic diabetes using iPSC-derived beta-like cells.

Cherkaoui I et al.

Medrxiv : the Preprint Server for Health Sciences, 2024

How do I diagnose Maturity Onset Diabetes of the Young in my patients?

Colclough K et al.

Clinical Endocrinology, 2022

A Comprehensive Analysis of Hungarian MODY Patients-Part I: Gene Panel Sequencing Reveals Pathogenic Mutations in HNF1A, HNF1B, HNF4A, ABCC8 and INS Genes.

Gaál Z et al.

Life (basel, Switzerland), 2021

Response to Comment on Misra et al. Homozygous Hypomorphic HNF1A Alleles Are a Novel Cause of Young-Onset Diabetes and Result in Sulfonylurea-Sensitive Diabetes. Diabetes Care 2020;43:909-912.

Misra S et al.

Diabetes Care, 2020

Homozygous Hypomorphic HNF1A Alleles Are a Novel Cause of Young-Onset Diabetes and Result in Sulfonylurea-Sensitive Diabetes.

Misra S et al.

Diabetes Care, 2020

Plasma Fucosylated Glycans and C-Reactive Protein as Biomarkers of HNF1A-MODY in Young Adult-Onset Nonautoimmune Diabetes.

Juszczak A et al.

Diabetes Care, 2019

Maturity onset diabetes of the young due to HNF1A variants in Croatia.

Pavić T et al.

Biochemia Medica, 2018

Mutations in HNF1A result in marked alterations of plasma glycan profile.

Thanabalasingham G et al.

Diabetes, 2013

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