Varaico: Literature-Extracted Genetic Variants

Gene:SPG11
Variant:p.E1026fs
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SPG11

NM_025137.4:p.E1026fs

Associated Papers

A systematic review and functional in-silico analysis of genes and variants associated with amyotrophic lateral sclerosis.

Arreola-Aldape CA et al.

Frontiers in Neuroscience, 2025

40589786 (PubMed )
Supplement: Table_4.xlsx › ClinVar_filtered_variants

Neuropsychology and MRI correlates of neurodegeneration in SPG11 hereditary spastic paraplegia.

Utz KS et al.

Orphanet Journal of Rare Diseases, 2022

[Significance of whole exome sequencing in the diagnostics of rare neurological diseases - own experiences through a case presenting with ataxia].

Balicza P et al.

Orvosi Hetilap, 2018

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