Varaico: Literature-Extracted Genetic Variants

Gene:SPAST
Variant:p.L447W
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SPAST

NM_014946.4:p.L447W

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

Clinically Relevant Genes Identified in Cerebral Palsy Cohorts Following Evaluation of the Clinical Description and Phenotype: A Systematic Review.

Wilson YA et al.

Journal of Child Neurology, 2024

39246294 (PubMed )
Supplement: sj-xlsx-2-jcn-10.1177_08830738241277231.xlsx › eTable_4

In-depth analysis reveals complex molecular aetiology in a cohort of idiopathic cerebral palsy.

Li N et al.

Brain : a Journal of Neurology, 2022

34077496 (PubMed )
Supplement: awab209_supplementary_data.zip › brain-2020-02299-File011.pdf
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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."