Varaico: Literature-Extracted Genetic Variants

Gene:ATP13A2
Variant:p.S941delFs
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ATP13A2

NM_022089.4:p.S941delFs

Associated Papers

Kufor-Rakeb syndrome: a cohort-based clinical, imaging and genetic profile.

Roy S et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2026

Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.

Zhi Y et al.

Cns Neuroscience & Therapeutics, 2025

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

Pain in monogenic Parkinson's disease: a comprehensive review.

Alizadeh P et al.

Frontiers in Neurology, 2023

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

Genotype-Phenotype Relations for the Atypical Parkinsonism Genes: MDSGene Systematic Review.

Wittke C et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2021

Juvenile dystonia-parkinsonism syndrome caused by a novel p.S941Tfs1X ATP13A2 (PARK9) mutation.

Martino D et al.

Parkinsonism & Related Disorders, 2015

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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."