Varaico: Literature-Extracted Genetic Variants

Gene:PRKN
Variant:p.C323Y
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PRKN

NM_004562.3:p.C323Y

Associated Papers

Systematic analysis of PINK1 variants of unknown significance shows intact mitophagy function for most variants.

Ma KY et al.

Npj Parkinson's Disease, 2021

High-throughput sequencing of mGluR signaling pathway genes reveals enrichment of rare variants in autism.

Kelleher RJ et al.

Plos One, 2012

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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."