Varaico: Literature-Extracted Genetic Variants

Gene:SPAST
Variant:p.Y51*
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SPAST

NM_014946.4:p.Y51*

Associated Papers

Hereditary Spastic Paraplegia in Alberta: Lessons from a Well-Defined Cohort Including the Indigenous Population.

Assaedi E et al.

Movement Disorders Clinical Practice, 2025

Experience in the clinical and genetic diagnosis of a series of Algerian patients with hereditary spastic paraplegias.

Messaoud-Khelifi M et al.

Neurogenetics, 2025

Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.

Zhi Y et al.

Cns Neuroscience & Therapeutics, 2025

39932116 (PubMed )
Supplement: CNS-31-e70260-s001.xlsx › SPG4

From spastic paraplegia to infantile neurodegenerative disorder: Expanding the phenotypic spectrum associated with biallelic SPAST variants.

Degoutin M et al.

European Journal of Neurology, 2025

Genetic etiology of progressive pediatric neurological disorders.

Aaltio J et al.

Pediatric Research, 2024

A high-throughput resequencing microarray for autosomal dominant spastic paraplegia genes.

Dufke C et al.

Neurogenetics, 2012

Hereditary spastic paraplegia due to SPAST mutations in 151 Dutch patients: new clinical aspects and 27 novel mutations.

de Bot ST et al.

Journal of Neurology, Neurosurgery, and Psychiatry, 2010

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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."