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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SPG11

Variant:p.S56fs

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SPG11

NM_025137.4:p.S56fs

hg38:chr15:44663482 GCT>N

Associated Papers

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

Montecchiani C et al.

Brain : a Journal of Neurology, 2016

26556829 (PubMed )

Overlapping phenotypes in complex spastic paraplegias SPG11, SPG15, SPG35 and SPG48.

Pensato V et al.

Brain : a Journal of Neurology, 2014

24833714 (PubMed )

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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."