Varaico: Literature-Extracted Genetic Variants

Gene:SPG11
Variant:p.S1844_K1845delFs
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SPG11

NM_025137.4:p.S1844_K1845delFs

Associated Papers

Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.

Zhi Y et al.

Cns Neuroscience & Therapeutics, 2025

39932116 (PubMed )
Supplement: CNS-31-e70260-s001.xlsx › SPG11

Novel SPG11 mutations in Asian kindreds and disruption of spatacsin function in the zebrafish.

Southgate L et al.

Neurogenetics, 2010

20390432 (PubMed )
Supplement: 10048_2010_243_MOESM2_ESM.pdf

Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration.

Stevanin G et al.

Brain : a Journal of Neurology, 2008

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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."