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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PINK1

Variant:p.G386S

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PINK1

NM_032409.3:p.G386S

hg38:chr1:20648537 G>A

Associated Papers

Genetic deficiency of the mitochondrial protein PGAM5 causes a Parkinson's-like movement disorder.

Lu W et al.

Nature Communications, 2014

25222142 (PubMed )

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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."