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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ANKLE1

Variant:p.E268Q

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ANKLE1

NM_152363.6:p.E268Q

hg38:chr19:17283566 G>C

Associated Papers

Mutated ATP10B increases Parkinson's disease risk by compromising lysosomal glucosylceramide export.

Martin S et al.

Acta Neuropathologica, 2020

32172343 (PubMed )

Supplement: 401_2020_2145_MOESM1_ESM.pdf

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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."