Varaico: Literature-Extracted Genetic Variants

Gene:SPG11
Variant:p.Q1800_I1801Fs
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SPG11

NM_025137.4:p.Q1800_I1801Fs

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

Exome sequencing in paediatric patients with movement disorders.

Kwong AK et al.

Orphanet Journal of Rare Diseases, 2021

Novel SPG11 mutations in Asian kindreds and disruption of spatacsin function in the zebrafish.

Southgate L et al.

Neurogenetics, 2010

20390432 (PubMed )
Supplement: 10048_2010_243_MOESM2_ESM.pdf
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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."