Varaico: Literature-Extracted Genetic Variants

Gene:ATP6AP2
Variant:p.E119E
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ATP6AP2

NM_005765.3:p.E119E

Associated Papers

Altered splicing of ATP6AP2 causes X-linked parkinsonism with spasticity (XPDS).

Korvatska O et al.

Human Molecular Genetics, 2013

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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."