Varaico: Literature-Extracted Genetic Variants

Gene:SPAST
Variant:p.I580insFs
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SPAST

NM_014946.4:p.I580insFs

Associated Papers

Diagnostic Yield and Genotype-Phenotype Correlations of Clinical Exome Sequencing in Hereditary Spastic Paraparesis: Experience From Eastern Spain.

Carretero-Vilarroig L et al.

European Journal of Neurology, 2026

Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.

Zhi Y et al.

Cns Neuroscience & Therapeutics, 2025

39932116 (PubMed )
Supplement: CNS-31-e70260-s001.xlsx › SPG4
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