Varaico: Literature-Extracted Genetic Variants

Gene:SPAST
Variant:p.G546E
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SPAST

NM_014946.4:p.G546E

Associated Papers

Phenotypic Heterogeneity in Genetic and Acquired Pediatric Cerebellar Disorders.

Granath K et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2025

40326640 (PubMed )
Supplement: MDS-40-1851-s003.xlsx › Variants

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

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