Varaico: Literature-Extracted Genetic Variants

Gene:PKD1
Variant:p.E2864*
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PKD1

NM_001009944.3:p.E2864*

Associated Papers

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

Yu CC et al.

Npj Genomic Medicine, 2022

Targeted Next-Generation Sequencing Identifies Pathogenic Variants in Diabetic Kidney Disease.

Lazaro-Guevara J et al.

American Journal of Nephrology, 2021

Targeted Next-Generation Sequencing for Clinical Diagnosis of 561 Mendelian Diseases.

Liu Y et al.

Plos One, 2015

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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."