Varaico: Literature-Extracted Genetic Variants

Gene:PKD1
Variant:p.Q2305_R2306Splc
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PKD1

NM_001009944.3:p.Q2305_R2306Splc

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

Identifying gene mutations of Chinese patients with polycystic kidney disease through targeted next-generation sequencing technology.

Wang T et al.

Molecular Genetics & Genomic Medicine, 2019

Novel mutations in the duplicated region of PKD1 gene.

Perrichot R et al.

European Journal of Human Genetics : Ejhg, 2000

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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."