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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PRKCSH

Variant:p.S267C

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PRKCSH

NM_001289104.2:p.S267C

hg38:chr19:11447111 C>G

Associated Papers

Atypical parkinsonism-associated retromer mutant alters endosomal sorting of specific cargo proteins.

McMillan KJ et al.

The Journal of Cell Biology, 2016

27528657 (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."