Varaico: Literature-Extracted Genetic Variants

Gene:SPG11
Variant:p.Q251*
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SPG11

NM_025137.4:p.Q251*

Associated Papers

Genetic Evaluation of Patients with Clinically Suspected Hereditary Spastic Paraplegia with Seven Novel Variants.

Özdemir TR et al.

Annals of Indian Academy of Neurology, 2025

Case report: Novel mutations in the SPG11 gene in a case of autosomal recessive hereditary spastic paraplegia with a thin corpus callosum.

Duan JQ et al.

Frontiers in Integrative Neuroscience, 2023

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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."