Varaico: Literature-Extracted Genetic Variants

Gene:SPG11
Variant:p.E1387_V1388Splc
Back to variants list

SPG11

NM_025137.4:p.E1387_V1388Splc

Associated Papers

Hereditary spastic paraplegia with thin corpus callosum and SPG11 mutation: A neuropathological evaluation.

Scherpelz KP et al.

Neuropathology : Official Journal of the Japanese Society of Neuropathology, 2025

Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.

Zhi Y et al.

Cns Neuroscience & Therapeutics, 2025

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

An autopsied case report of spastic paraplegia with thin corpus callosum carrying a novel mutation in the SPG11 gene: widespread degeneration with eosinophilic inclusions.

Hayakawa M et al.

Bmc Neurology, 2022

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."