Varaico: Literature-Extracted Genetic Variants

Gene:SPAST
Variant:p.S413L
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SPAST

NM_014946.4:p.S413L

Associated Papers

Genetic etiology of progressive pediatric neurological disorders.

Aaltio J et al.

Pediatric Research, 2024

A novel missense mutation in SPAST causes hereditary spastic paraplegia in male members of a family: A case report.

Wang XC et al.

Molecular Medicine Reports, 2023

De novo SPAST mutations may cause a complex SPG4 phenotype.

Schieving JH et al.

Brain : a Journal of Neurology, 2019

Clinical and genetic findings in a series of Italian children with pure hereditary spastic paraplegia.

Battini R et al.

European Journal of Neurology, 2011

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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."