Varaico: Literature-Extracted Genetic Variants

Gene:SPG11
Variant:p.C133fs
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SPG11

NM_025137.4:p.C133fs

Associated Papers

Severe axonal neuropathy is a late manifestation of SPG11.

Manole A et al.

Journal of Neurology, 2016

Genetic and phenotypic characterization of complex hereditary spastic paraplegia.

Kara E et al.

Brain : a Journal of Neurology, 2016

ALS5/SPG11/KIAA1840 mutations cause autosomal recessive axonal Charcot-Marie-Tooth disease.

Montecchiani C et al.

Brain : a Journal of Neurology, 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."