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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SPAST

Variant:p.M540_T541delFs

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SPAST

NM_014946.4:p.M540_T541delFs

hg38:chr2:32144938 ATGAC>A

Associated Papers

Clinical and Paraclinical Indicators of Motor System Impairment in Hereditary Spastic Paraplegia: A Pilot Study.

Martinuzzi A et al.

Plos One, 2016

27077743 (PubMed )

Supplement: pone.0153283.s001.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."