Varaico: Literature-Extracted Genetic Variants

Gene:SPAST
Variant:p.K554E
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SPAST

NM_014946.4:p.K554E

Associated Papers

Expanding Hereditary Spastic Paraplegias Limits: Biallelic SPAST Variants in Cerebral Palsy Mimics.

Nolasco GA et al.

Annals of Clinical and Translational Neurology, 2026

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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."