Varaico: Literature-Extracted Genetic Variants

Gene:SPAST
Variant:p.E112Q
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SPAST

NM_014946.4:p.E112Q

Associated Papers

Mutant spastin proteins promote deficits in axonal transport through an isoform-specific mechanism involving casein kinase 2 activation.

Leo L et al.

Human Molecular Genetics, 2017

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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."