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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SPG11

Variant:p.Q145fs

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SPG11

NM_025137.4:p.Q145fs

hg38:chr15:44660441 TTG>N

Associated Papers

Clinical and molecular characterization of hereditary spastic paraplegias: A next-generation sequencing panel approach.

Burguez D et al.

Journal of the Neurological Sciences, 2017

29246610 (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."