Varaico: Literature-Extracted Genetic Variants

Gene:PKD1
Variant:p.G2931Splc
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PKD1

NM_001009944.3:p.G2931Splc

Associated Papers

PKD1 Splice and PKD2 Nonsense Variants Identified in Two Chinese Families With Autosomal Dominant Polycystic Kidney Disease.

Li Z et al.

Nephrology (carlton, Vic.), 2025

Detection of PKD1 and PKD2 Somatic Variants in Autosomal Dominant Polycystic Kidney Cyst Epithelial Cells by Whole-Genome Sequencing.

Zhang Z et al.

Journal of the American Society of Nephrology : Jasn, 2021

Novel mutations of PKD genes in the Czech population with autosomal dominant polycystic kidney disease.

Obeidova L et al.

Bmc Medical Genetics, 2014

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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."