Varaico: Literature-Extracted Genetic Variants

Gene:HNF1B
Variant:p.R303S
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HNF1B

NM_000458.4:p.R303S

Associated Papers

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

Framework From a Multidisciplinary Approach for Transitioning Variants of Unknown Significance From Clinical Genetic Testing in Kidney Disease to a Definitive Classification.

Mirshahi UL et al.

Kidney International Reports, 2022

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