Varaico: Literature-Extracted Genetic Variants

Gene:PKD2
Variant:p.A365Splc
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PKD2

NM_000297.4:p.A365Splc

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

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

Genetic diagnosis of autosomal dominant polycystic kidney disease: linkage analysis versus direct mutation analysis.

Lee KB

Kidney Research and Clinical Practice, 2016

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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."