Varaico: Literature-Extracted Genetic Variants

Gene:SPAST
Variant:p.T389A
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SPAST

NM_014946.4:p.T389A

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

Genetic etiology of progressive pediatric neurological disorders.

Aaltio J et al.

Pediatric Research, 2024

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

Genome scale analysis of pathogenic variants targetable for single base editing.

Lavrov AV et al.

Bmc Medical Genomics, 2020

32948190 (PubMed )
Supplement: 12920_2020_735_MOESM1_ESM.xlsx › mutations

The impact of next-generation sequencing on the diagnosis of pediatric-onset hereditary spastic paraplegias: new genotype-phenotype correlations for rare HSP-related genes.

Travaglini L et al.

Neurogenetics, 2018

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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."