Varaico: Literature-Extracted Genetic Variants

Gene:HNF1A
Variant:p.E32K
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HNF1A

NM_000545.8:p.E32K

Associated Papers

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

Diabetic Nephropathy, Retinopathy, and Functional Hypogonadism in a Patient with MODY10: A Case Report.

Ruiz-Urbaez R et al.

Medicina (kaunas, Lithuania), 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_Probands
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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."