Varaico: Literature-Extracted Genetic Variants

Gene:SPAST
Variant:p.G559D
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SPAST

NM_014946.4:p.G559D

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

Implementation of Exome Sequencing in Clinical Practice for Neurological Disorders.

Alvarez-Mora MI et al.

Genes, 2023

37107571 (PubMed )
Supplement: genes-14-00813-s001.zip › genes-2265012-supplementary.pdf

Genetic and Epidemiological Study of Adult Ataxia and Spastic Paraplegia in Eastern Quebec.

Haj Salem I et al.

The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques, 2021

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

Sandate CR et al.

Nature Structural & Molecular Biology, 2019

Systematic analysis of the intersection of disease mutations with protein modifications.

Simpson CM et al.

Bmc Medical Genomics, 2019

31345222 (PubMed )
Supplement: 12920_2019_543_MOESM6_ESM.xlsx › S5C

Clinical and genetic study of hereditary spastic paraplegia in Canada.

Chrestian N et al.

Neurology. Genetics, 2017

27957547 (PubMed )
Supplement: supp_3.1.e122_Table_e-1.xls › Feuil1

Mutation screening of spastin, atlastin, and REEP1 in hereditary spastic paraplegia.

McCorquodale DS et al.

Clinical Genetics, 2011

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

Svenson IK et al.

Neurogenetics, 2004

Spectrum of SPG4 mutations in a large collection of North American families with hereditary spastic paraplegia.

Meijer IA et al.

Archives of Neurology, 2002

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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."