Varaico: Literature-Extracted Genetic Variants

Gene:SPG11
Variant:p.T2068T
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SPG11

NM_025137.4:p.T2068T

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

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

Monozygotic twins with a new compound heterozygous SPG11 mutation and different disease expression.

Schneider-Gold C et al.

Journal of the Neurological Sciences, 2017

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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."