Varaico: Literature-Extracted Genetic Variants

Gene:SPAST
Variant:p.G546R
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SPAST

NM_014946.4:p.G546R

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

Clinically Relevant Genes Identified in Cerebral Palsy Cohorts Following Evaluation of the Clinical Description and Phenotype: A Systematic Review.

Wilson YA et al.

Journal of Child Neurology, 2024

39246294 (PubMed )
Supplement: sj-xlsx-2-jcn-10.1177_08830738241277231.xlsx › eTable_4

Genetic etiology of progressive pediatric neurological disorders.

Aaltio J et al.

Pediatric Research, 2024

New cellular imaging-based method to distinguish the SPG4 subtype of hereditary spastic paraplegia.

Sardina F et al.

European Journal of Neurology, 2023

Insights From Genetic Studies of Cerebral Palsy.

Lewis SA et al.

Frontiers in Neurology, 2020

33551980 (PubMed )
Supplement: Table_1.XLSX › variants

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

De novo SPAST mutations may cause a complex SPG4 phenotype.

Schieving JH et al.

Brain : a Journal of Neurology, 2019

A series of Greek children with pure hereditary spastic paraplegia: clinical features and genetic findings.

Polymeris AA et al.

Journal of Neurology, 2016

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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."