Varaico: Literature-Extracted Genetic Variants

Gene:HNF1A
Variant:p.D135delFs
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HNF1A

NM_000545.8:p.D135delFs

Associated Papers

MODY Is Prevalent in Later-Onset Diabetes and Has Potential for Targeted Therapy but Is Challenging to Identify.

Sharp LN et al.

Diabetes, 2026

41288518 (PubMed )
Supplement: EMS210954-supplement-Supplementary_Materials.pdf

Common genetic variants modify disease risk and clinical presentation in monogenic diabetes.

Murray Leech J et al.

Nature Metabolism, 2025

40925988 (PubMed )
Supplement: 42255_2025_1372_MOESM1_ESM.pdf

Identification of monogenic diabetes in an Australian cohort using the Exeter maturity-onset diabetes of the young (MODY) probability calculator and next-generation sequencing gene panel testing.

De Sousa SMC et al.

Acta Diabetologica, 2024

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_Family_Members

Monogenic Diabetes in a Child with Cystic Fibrosis: A Case Report and Review of the Literature.

Scully KJ et al.

Journal of the Endocrine Society, 2021

Monogenic diabetes mellitus in cystic fibrosis.

Gan HW et al.

Archives of Disease in Childhood, 2019

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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."