Varaico: Literature-Extracted Genetic Variants

Gene:SPAST
Variant:p.L549_T550insT
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SPAST

NM_014946.4:p.L549_T550insT

Associated Papers

Expansion of mutation spectrum, determination of mutation cluster regions and predictive structural classification of SPAST mutations in hereditary spastic paraplegia.

Shoukier M et al.

European Journal of Human Genetics : Ejhg, 2009

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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."