Varaico: Literature-Extracted Genetic Variants

Gene:SPAST
Variant:p.R562G
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SPAST

NM_014946.4:p.R562G

Associated Papers

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

Hereditary spastic paraplegia SPG4: what is known and not known about the disease.

Solowska JM et al.

Brain : a Journal of Neurology, 2015

Congenital bovine spinal dysmyelination is caused by a missense mutation in the SPAST gene.

Thomsen B et al.

Neurogenetics, 2010

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

Svenson IK et al.

Neurogenetics, 2004

Identification and expression analysis of spastin gene mutations in hereditary spastic paraplegia.

Svenson IK et al.

American Journal of Human Genetics, 2001

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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."