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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SPG7

Variant:p.G646Splc

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SPG7

NM_003119.4:p.G646Splc

hg38:chr16:89553778 C>G

Associated Papers

SPG7 mutations in amyotrophic lateral sclerosis: a genetic link to hereditary spastic paraplegia.

Osmanovic A et al.

Journal of Neurology, 2020

32447552 (PubMed )

Supplement: 415_2020_9861_MOESM1_ESM.pdf

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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."