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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ATP13A2

Variant:p.L718H

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ATP13A2

NM_022089.4:p.L718H

hg38:chr1:16991832 A>T

Associated Papers

Phenotypic assays in yeast and zebrafish reveal drugs that rescue ATP13A2 deficiency.

Heins-Marroquin U et al.

Brain Communications, 2019

32954262 (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."