Varaico: Literature-Extracted Genetic Variants

Gene:SPG11
Variant:p.S2065*
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SPG11

NM_025137.4:p.S2065*

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 compound heterozygous variants of SPG11 gene associated with young-adult amyotrophic lateral sclerosis.

Santos Silva C et al.

Acta Neurologica Belgica, 2023

Clinical spectrum and genetic landscape for hereditary spastic paraplegias in China.

Dong EL et al.

Molecular Neurodegeneration, 2018

Exome sequencing reveals novel SPG11 mutation in hereditary spastic paraplegia with complicated phenotypes.

Li YS et al.

Journal of Clinical Neuroscience : Official Journal of the Neurosurgical Society of Australasia, 2015

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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."