Varaico: Literature-Extracted Genetic Variants

Gene:HNF1A
Variant:p.N237D
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HNF1A

NM_000545.8:p.N237D

Associated Papers

Genetic Structure of Hereditary Forms of Diabetes Mellitus in Russia.

Minniakhmetov IR et al.

International Journal of Molecular Sciences, 2025

Case Report: Misdiagnosis of Maturity-Onset Diabetes of the Young as type 1, type 2 or gestational diabetes: insights from a Latin American tertiary center.

Ruiz-Urbaez R et al.

Frontiers in Medicine, 2025

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

Clinical and genetic features of maturity-onset diabetes of the young in pediatric patients: a 12-year monocentric experience.

Passanisi S et al.

Diabetology & Metabolic Syndrome, 2021

Whole‑exome sequencing in Russian children with non‑type 1 diabetes mellitus reveals a wide spectrum of genetic variants in MODY‑related and unrelated genes.

Glotov OS et al.

Molecular Medicine Reports, 2019

Maturity Onset Diabetes of the Young is Not Necessarily Associated with Autosomal Inheritance: Case Description of a De Novo HFN1A Mutation.

Salzano G et al.

Diabetes Therapy : Research, Treatment and Education of Diabetes and Related Disorders, 2019

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

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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."