Varaico: Literature-Extracted Genetic Variants

Gene:ATP13A2
Variant:p.T519I
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ATP13A2

NM_022089.4:p.T519I

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

Neurodegeneration with brain iron accumulation: Characterization of clinical, radiological, and genetic features of pediatric patients from Southern India.

Bhardwaj NK et al.

Brain & Development, 2021

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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."