Varaico: Literature-Extracted Genetic Variants

Gene:PKD1
Variant:p.Y2945*
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PKD1

NM_001009944.3:p.Y2945*

Associated Papers

Elucidating the Molecular Landscape of Cystic Kidney Disease: Old Friends, New Friends and Some Surprises.

Watson D et al.

American Journal of Medical Genetics. Part A, 2025

Targeted next-generation sequencing as a comprehensive test for Mendelian diseases: a cohort diagnostic study.

Sun Y et al.

Scientific Reports, 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."