Varaico: Literature-Extracted Genetic Variants

Gene:ATP13A2
Variant:p.F177I
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ATP13A2

NM_001141973.3:p.F177I

Associated Papers

Loss-of-function mutations in the ATP13A2/PARK9 gene cause complicated hereditary spastic paraplegia (SPG78).

Estrada-Cuzcano A et al.

Brain : a Journal of Neurology, 2017

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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."