Varaico: Literature-Extracted Genetic Variants

Gene:SPAST
Variant:p.A409T
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SPAST

NM_014946.4:p.A409T

Associated Papers

A Retrospective Review of 18 Patients With Childhood-Onset Hereditary Spastic Paraplegia, Nine With Novel Variants.

Kilic MA et al.

Pediatric Neurology, 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

Novel and recurrent spastin mutations in a large series of SPG4 Italian families.

Nanetti L et al.

Neuroscience Letters, 2012

Mutational spectrum of the SPG4 (SPAST) and SPG3A (ATL1) genes in Spanish patients with hereditary spastic paraplegia.

Alvarez V et al.

Bmc Neurology, 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."