Varaico: Literature-Extracted Genetic Variants

Gene:SPG11
Variant:p.A704_Q705del2
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SPG11

NM_025137.4:p.A704_Q705del2

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

ALS Identified: two-year findings from a sponsored ALS genetic testing program.

Goutman SA et al.

Annals of Clinical and Translational Neurology, 2024

39044379 (PubMed )
Supplement: ACN3-11-2201-s003.xlsx › ClinGen_VariantClassification

Neurometabolic Dysfunction in SPG11 Hereditary Spastic Paraplegia.

Regensburger M et al.

Nutrients, 2022

Neuropsychology and MRI correlates of neurodegeneration in SPG11 hereditary spastic paraplegia.

Utz KS et al.

Orphanet Journal of Rare Diseases, 2022

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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."