Varaico: Literature-Extracted Genetic Variants

Gene:SPG11
Variant:p.D402fs
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SPG11

NM_025137.4:p.D402fs

Associated Papers

Burden of pathogenetic and likely pathogenetic variants in SPG7, SPG11 and AP4 genes in Amyotrophic Lateral Sclerosis. A case-control study.

Doronzio PN et al.

Journal of Neurology, 2025

A case of spastic paraplegia type 11 mimicking a GM2-gangliosidosis.

Lopergolo D et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2022

Overlapping phenotypes in complex spastic paraplegias SPG11, SPG15, SPG35 and SPG48.

Pensato V et al.

Brain : a Journal of Neurology, 2014

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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."