Varaico: Literature-Extracted Genetic Variants

Gene:HNF1B
Variant:p.Q130*
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HNF1B

NM_000458.4:p.Q130*

Associated Papers

MODY5 and 17q12 Microdeletion Syndrome: Phenotype Variability, Prenatal and Postnatal Counseling.

Fontana P et al.

Genes, 2025

Genetic spectrum of CAKUT and risk factors for kidney failure: a pediatric multicenter cohort study.

Liu JL et al.

Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2022

36549658 (PubMed )
Supplement: gfac338_supplemental_file.pdf

Gene Panel Sequencing of Patients With Monogenic Diabetes Brings to Light Genes Typically Associated With Syndromic Presentations.

Saint-Martin C et al.

Diabetes, 2022

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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."