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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ATP13A2

Variant:p.Y483D

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ATP13A2

NM_022089.4:p.Y483D

hg38:chr1:16996071 A>C

Associated Papers

A rare inherited homozygous missense variant in PLA2G6 influences susceptibility to infantile neuroaxonal dystrophy: a case report.

Lyu Y et al.

Translational Pediatrics, 2024

38590380 (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."