Varaico: Literature-Extracted Genetic Variants

Gene:PKD1
Variant:p.R832fs
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PKD1

NM_001009944.3:p.R832fs

Associated Papers

Importance of IFT140 in Patients with Polycystic Kidney Disease Without a Family History.

Fujimaru T et al.

Kidney International Reports, 2024

39291187 (PubMed )
Supplement: mmc1.pdf

PKD2 founder mutation is the most common mutation of polycystic kidney disease in Taiwan.

Yu CC et al.

Npj Genomic Medicine, 2022

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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."