Varaico: Literature-Extracted Genetic Variants

Gene:ATP13A2
Variant:p.I441F
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ATP13A2

NM_022089.4:p.I441F

Associated Papers

Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.

Zhi Y et al.

Cns Neuroscience & Therapeutics, 2025

39932116 (PubMed )
Supplement: CNS-31-e70260-s001.xlsx › SPG78

Mitochondrial dysfunction in ATP13A2 carriers.

Finsterer J et al.

Brain & Development, 2019

ATP13A2 novel mutations causing a rare form of juvenile-onset Parkinson disease.

Suleiman J et al.

Brain & Development, 2018

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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."