Varaico: Literature-Extracted Genetic Variants

Gene:HNF1B
Variant:p.H336fs
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HNF1B

NM_000458.4:p.H336fs

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

In Vitro Functional Analysis Can Aid Precision Diagnostics of HNF1B-MODY.

Pavithram A et al.

The Journal of Molecular Diagnostics : Jmd, 2024

Hepatocyte Nuclear Factor 1 Beta Mutation-associated Newborn Onset of Glomerulocystic Kidney Disease: A Case Presentation.

Goknar N et al.

Medeniyet Medical Journal, 2021

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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."