Varaico: Literature-Extracted Genetic Variants

Gene:PKD2
Variant:p.R440Splc
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PKD2

NM_000297.4:p.R440Splc

Associated Papers

Genetic diagnosis and prenatal diagnosis of patients with cystic kidney disease in Southwest China.

Zhou C et al.

Bmc Nephrology, 2025

Single-Base Substitution Causing Dual-Exon Skipping Event in PKD2 Gene: Unusual Molecular Finding from Exome Sequencing in a Patient with Autosomal Dominant Polycystic Kidney Disease.

De Paolis E et al.

Journal of Clinical Medicine, 2024

Increased prevalence of polycystic kidney disease type 2 among elderly polycystic patients.

Torra R et al.

American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation, 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."