Varaico: Literature-Extracted Genetic Variants

Gene:PKD1
Variant:p.R832fs
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PKD1

NM_001009944.3:p.R832fs

Associated Papers

Diagnostic Yield and Clinical Impact of a Small Genetic Panel for Kidney Disease: A Multicenter, Retrospective European Study.

Giovanella S et al.

Clinical Genetics, 2026

40533884 (PubMed )
Supplement: CGE-109-136-s001.docx

Evaluating gene variations in autosomal dominant polycystic kidney disease patients using whole exome sequencing and phenotype to genotype analysis.

Aypek H et al.

Renal Failure, 2025

41032671 (PubMed )
Supplement: IRNF_A_2547306_SM0962.docx

Gene Panel Analysis in a Large Cohort of Patients With Autosomal Dominant Polycystic Kidney Disease Allows the Identification of 80 Potentially Causative Novel Variants and the Characterization of a Complex Genetic Architecture in a Subset of Families.

Mantovani V et al.

Frontiers in Genetics, 2020

32457805 (PubMed )
Supplement: Data_Sheet_1.PDF

Identification of novel mutations and risk assessment of Han Chinese patients with autosomal dominant polycystic kidney disease.

Zhang M et al.

Nephrology (carlton, Vic.), 2019

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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."