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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SPAST

Variant:p.T357delFs

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SPAST

NM_199436.2:p.T357delFs

hg38:chr2:32127013 GA>G

Associated Papers

Hereditary spastic paraplegia due to SPAST mutations in 151 Dutch patients: new clinical aspects and 27 novel mutations.

de Bot ST et al.

Journal of Neurology, Neurosurgery, and Psychiatry, 2010

20562464 (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."