Varaico: Literature-Extracted Genetic Variants

Gene:SPG11
Variant:p.Q1436fs
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SPG11

NM_025137.4:p.Q1436fs

Associated Papers

Case report: High-frequency repetitive transcranial magnetic stimulation for treatment of hereditary spastic paraplegia type 11.

Chen S et al.

Frontiers in Neurology, 2023

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

Utz KS et al.

Orphanet Journal of Rare Diseases, 2022

Hereditary spastic paraplegia in Greece: characterisation of a previously unexplored population using next-generation sequencing.

Lynch DS et al.

European Journal of Human Genetics : Ejhg, 2016

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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."