Varaico: Literature-Extracted Genetic Variants

Gene:SPAST
Variant:p.G417E
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SPAST

NM_014946.4:p.G417E

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

Reply to: Early-Onset and Severe Complex Hereditary Spastic Paraplegia Caused by De Novo Variants in SPAST.

Saffari A et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2023

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

Genetic and clinical features of pediatric-onset hereditary spastic paraplegia: a single-center study in Japan.

Ikeda A et al.

Frontiers in Neurology, 2023

An allosteric network in spastin couples multiple activities required for microtubule severing.

Sandate CR et al.

Nature Structural & Molecular Biology, 2019

31285604 (PubMed )
Supplement: NIHMS1530257-supplement-3.pdf

CYP7B1 mutations in pure and complex forms of hereditary spastic paraplegia type 5.

Goizet C et al.

Brain : a Journal of Neurology, 2009

Expansion of mutation spectrum, determination of mutation cluster regions and predictive structural classification of SPAST mutations in hereditary spastic paraplegia.

Shoukier M et al.

European Journal of Human Genetics : Ejhg, 2009

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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."