Varaico: Literature-Extracted Genetic Variants

Gene:PKD1
Variant:p.D1205H
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PKD1

NM_001009944.3:p.D1205H

Associated Papers

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

Xu D et al.

Clinical Chemistry, 2024

Novel mutations of PKD genes in Chinese patients suffering from autosomal dominant polycystic kidney disease and seeking assisted reproduction.

He WB et al.

Bmc Medical Genetics, 2018

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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."