Varaico: Literature-Extracted Genetic Variants

Gene:SPAST
Variant:p.D555G
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SPAST

NM_014946.4:p.D555G

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

Clinical features and genetic spectrum of Chinese patients with hereditary spastic paraplegia: A 14-year study.

Yu W et al.

Frontiers in Genetics, 2023

Genome sequencing with comprehensive variant calling identifies structural variants and repeat expansions in a large fraction of individuals with ataxia and/or neuromuscular disorders.

Ek M et al.

Frontiers in Neurology, 2023

37273706 (PubMed )
Supplement: Table_2.xlsx › Blad1

Screening for REEP1 Mutations in 31 Chinese Hereditary Spastic Paraplegia Families.

Ma X et al.

Frontiers in Neurology, 2020

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

Sandate CR et al.

Nature Structural & Molecular Biology, 2019

High frequency of SPG4 in Taiwanese families with autosomal dominant hereditary spastic paraplegia.

Lan MY et al.

Bmc Neurology, 2014

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."