Varaico: Literature-Extracted Genetic Variants

Gene:PKD1
Variant:p.P1561S
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PKD1

NM_001009944.3:p.P1561S

Associated Papers

The Common PKD1 p.(Ile3167Phe) Variant Is Hypomorphic and Associated with Very Early Onset, Biallelic Polycystic Kidney Disease.

Durkie M et al.

Human Mutation, 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."