Varaico: Literature-Extracted Genetic Variants

Gene:SPG11
Variant:p.I450fs
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SPG11

NM_025137.4:p.I450fs

Associated Papers

Whole genome sequencing analysis in primary lateral sclerosis (PLS) patients reveals mutations in neurological diseases-causing genes.

Manini A et al.

Journal of Neurology, 2025

ALS Identified: two-year findings from a sponsored ALS genetic testing program.

Goutman SA et al.

Annals of Clinical and Translational Neurology, 2024

39044379 (PubMed )
Supplement: ACN3-11-2201-s003.xlsx › ClinGen_VariantClassification

Genetic and phenotypic characterization of complex hereditary spastic paraplegia.

Kara E et al.

Brain : a Journal of Neurology, 2016

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