Varaico: Literature-Extracted Genetic Variants

Gene:PKD2
Variant:p.Q300*
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PKD2

NM_000297.4:p.Q300*

Associated Papers

Exome Sequencing of a Clinical Population for Autosomal Dominant Polycystic Kidney Disease.

Chang AR et al.

Jama, 2022

Nephroplex: a kidney-focused NGS panel highlights the challenges of PKD1 sequencing and identifies a founder BBS4 mutation.

Zacchia M et al.

Journal of Nephrology, 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."