Varaico: Literature-Extracted Genetic Variants

Gene:SPAST
Variant:p.P56S
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SPAST

NM_014946.4:p.P56S

Associated Papers

From spastic paraplegia to infantile neurodegenerative disorder: Expanding the phenotypic spectrum associated with biallelic SPAST variants.

Degoutin M et al.

European Journal of Neurology, 2025

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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."