Varaico: Literature-Extracted Genetic Variants

Gene:HNF1B
Variant:p.H336delFs
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HNF1B

NM_000458.4:p.H336delFs

Associated Papers

Results of Multigene Panel Testing, Including PKD1, in >1,200 Patients With Cystic Kidney Disease: A Retrospective Analysis.

Tapper EE et al.

Kidney Medicine, 2026

41509997 (PubMed )
Supplement: mmc1.xlsx › Table_S3-_Positive_SNV___indel

From mutation to symptoms: a multi-center study on HNF1B-related nephropathy in Chinese children.

Zhang H et al.

Bmc Nephrology, 2025

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

Fontana P et al.

Genes, 2025

Expression, Epigenetic, and Genetic Changes of HNF1B in Colorectal Lesions: an Analysis of 145 Cases.

Bártů M et al.

Pathology Oncology Research : Por, 2020

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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."