Varaico: Literature-Extracted Genetic Variants

Gene:HNF1A
Variant:p.Q109Splc
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HNF1A

NM_000545.8:p.Q109Splc

Associated Papers

Genetic and Clinical Characteristics of Monogenic Diabetes in Japan: A Nationwide Study by the Japan Diabetes Society.

Yoshiji S et al.

The Journal of Clinical Endocrinology and Metabolism, 2026

Revealing Monogenic Diabetes: Clinical and Genetic Features of Pediatric MODY Cases in Türkiye: Single Center Experience.

Sanri A et al.

Pediatric Diabetes, 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_Family_Members
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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."