Varaico: Literature-Extracted Genetic Variants

Gene:SPAST
Variant:p.L380H
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SPAST

NM_014946.4:p.L380H

Associated Papers

Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.

Zhi Y et al.

Cns Neuroscience & Therapeutics, 2025

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

SPAST mutation spectrum and familial occurrence among Czech patients with pure hereditary spastic paraplegia.

Mészárosová AU et al.

Journal of Human Genetics, 2016

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

Alvarez V et al.

Bmc Neurology, 2010

Seven novel mutations and four exon deletions in a collection of Norwegian patients with SPG4 hereditary spastic paraplegia.

Erichsen AK et al.

European Journal of Neurology, 2007

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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."