Varaico: Literature-Extracted Genetic Variants

Gene:SPAST
Variant:p.L466P
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SPAST

NM_014946.4:p.L466P

Associated Papers

Whole exome sequencing in Serbian patients with hereditary spastic paraplegia.

Brankovic M et al.

Neurogenetics, 2024

Targeted sequencing and integrative analysis to prioritize candidate genes in neurodevelopmental disorders.

Zhang Y et al.

Molecular Neurobiology, 2021

33860439 (PubMed )
Supplement: 12035_2021_2377_MOESM8_ESM.xlsx › Validated_mutations
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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."