Varaico: Literature-Extracted Genetic Variants

Gene:PKD1
Variant:p.W3263C
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PKD1

NM_001009944.3:p.W3263C

Associated Papers

Targeted long-read sequencing enables higher diagnostic yield of ADPKD by accurate PKD1 genetic analysis.

Sun Q et al.

Npj Genomic Medicine, 2025

Comprehensive Analysis of PKD1 and PKD2 by Long-Read Sequencing in Autosomal Dominant Polycystic Kidney Disease.

Xu D et al.

Clinical Chemistry, 2024

Comprehensive strategy improves the genetic diagnosis of different polycystic kidney diseases.

Hu HY et al.

Journal of Cellular and Molecular Medicine, 2021

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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."