Varaico: Literature-Extracted Genetic Variants

Gene:SPAST
Variant:p.E576_M577Splc
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SPAST

NM_014946.4:p.E576_M577Splc

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

Cohort analysis of novel SPAST variants in SPG4 patients and implementation of in vitro and in vivo studies to identify the pathogenic mechanism caused by splicing mutations.

Ferese R et al.

Frontiers in Neurology, 2023

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