Varaico: Literature-Extracted Genetic Variants

Gene:ATP13A2
Variant:p.L1006_L1007del1
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ATP13A2

NM_022089.4:p.L1006_L1007del1

Associated Papers

Phenotypic Variability in ATP13A2 Mutations: The First Report of SPG78 From India.

Lalitha LP et al.

Journal of Movement Disorders, 2025

40583806 (PubMed )
Supplement: jmd-25100-Supplementary-Table-1.pdf

Autosomal Recessive Spastic Paraplegia Type 78 Associated with a Homozygous Variant in the ATP13A2 Gene.

Algahtani H et al.

Movement Disorders Clinical Practice, 2022

The Roles of ATP13A2 Gene Mutations Leading to Abnormal Aggregation of α-Synuclein in Parkinson's Disease.

Zhang F et al.

Frontiers in Cellular Neuroscience, 2022

Cryo-EM structures and transport mechanism of human P5B type ATPase ATP13A2.

Chen X et al.

Cell Discovery, 2021

34728622 (PubMed )
Supplement: 41421_2021_334_MOESM1_ESM.pdf

Clinical and genetic analysis of ATP13A2 in hereditary spastic paraplegia expands the phenotype.

Estiar MA et al.

Molecular Genetics & Genomic Medicine, 2020

Genetic and phenotypic characterization of complex hereditary spastic paraplegia.

Kara E et al.

Brain : a Journal of Neurology, 2016

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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."