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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SPG11

Variant:p.M245V

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SPG11

NM_025137.4:p.M245V

hg38:chr15:44657231 T>C

Associated Papers

Genetic and phenotypic characterization of complex hereditary spastic paraplegia.

Kara E et al.

Brain : a Journal of Neurology, 2016

27217339 (PubMed )

Hereditary spastic paraplegia type 11 with a very late onset.

Rubegni A et al.

Journal of Neurology, 2015

26183056 (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."