Varaico: Literature-Extracted Genetic Variants

Gene:SPAST
Variant:p.E563D
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SPAST

NM_014946.4:p.E563D

Associated Papers

Exon deletions of SPG4 are a frequent cause of hereditary spastic paraplegia.

Depienne C et al.

Journal of Medical Genetics, 2007

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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."