Varaico: Literature-Extracted Genetic Variants

Gene:PKD1
Variant:p.E2771V
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PKD1

NM_001009944.3:p.E2771V

Associated Papers

New Variants Identified by Next-Generation Sequencing in Polycystic Kidney Disease Patients.

Ozyavuz Cubuk P et al.

Biochemical Genetics, 2024

Case report: Genotype-phenotype characteristics of nine novel PKD1 mutations in eight Chinese patients with autosomal dominant polycystic kidney disease.

Zhuang J et al.

Frontiers in Medicine, 2023

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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."