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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ATP13A2

Variant:p.A467V

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ATP13A2

NM_001141973.3:p.A467V

hg38:chr1:16996103 G>A

Associated Papers

ATP13A2 deficiency disrupts lysosomal polyamine export.

van Veen S et al.

Nature, 2020

31996848 (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."