Varaico: Literature-Extracted Genetic Variants

Gene:SPG7
Variant:p.G384fs
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SPG7

NM_003119.4:p.G384fs

Associated Papers

Expansion of the mutation and phenotypic spectrum of hereditary spastic paraplegia.

Xing F et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2022

A novel compound heterozygous SPG7 variant is associated with progressive spastic ataxia and persecutory delusions found in Chinese patients: two case reports.

Wang S et al.

Bmc Neurology, 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."