Varaico: Literature-Extracted Genetic Variants

Gene:SPG11
Variant:p.E1387_V1388Splc
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SPG11

NM_025137.4:p.E1387_V1388Splc

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

Chinese families with autosomal recessive hereditary spastic paraplegia caused by mutations in SPG11.

Chen X et al.

Bmc Neurology, 2020

Homocarnosinosis: A historical update and findings in the SPG11 gene.

Sjaastad O et al.

Acta Neurologica Scandinavica, 2018

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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."