Varaico: Literature-Extracted Genetic Variants

Gene:ATP13A2
Variant:p.R989P
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ATP13A2

NM_022089.4:p.R989P

Associated Papers

Case Report: Novel ATP13A2 pathogenic variants associated with early-onset parkinsonism and a mini-review.

Affronte L et al.

Frontiers in Genetics, 2025

Kufor Rakeb syndrome without gaze palsy and pyramidal signs due to novel ATP13A2 mutations.

Satolli S et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2023

Genetic Analysis of Patients With Early-Onset Parkinson's Disease in Eastern China.

Hua P et al.

Frontiers in Aging Neuroscience, 2022

35645773 (PubMed )
Supplement: Data_Sheet_1.PDF
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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."