Varaico: Literature-Extracted Genetic Variants

Gene:SPAST
Variant:p.G471_V472Splc
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SPAST

NM_014946.4:p.G471_V472Splc

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

De novo SPAST mutations may cause a complex SPG4 phenotype.

Schieving JH et al.

Brain : a Journal of Neurology, 2019

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

Mészárosová AU et al.

Journal of Human Genetics, 2016

Intragenic modifiers of hereditary spastic paraplegia due to spastin gene mutations.

Svenson IK et al.

Neurogenetics, 2004

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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."