Varaico: Literature-Extracted Genetic Variants

Gene:PINK1
Variant:p.E417_V418Splc
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PINK1

NM_032409.3:p.E417_V418Splc

Associated Papers

Population-Specific Differences in Pathogenic Variants of Genes Associated with Monogenic Parkinson's Disease.

Flores-Ocampo V et al.

Genes, 2025

40282414 (PubMed )
Supplement: genes-16-00454-s001.zip › Supplementary_Tables.xlsx › ST2

PINK1-PD: A compound heterozygote of Filipino ancestry and 7 Tesla MRI findings.

Dulski J et al.

Parkinsonism & Related Disorders, 2024

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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."