Varaico: Literature-Extracted Genetic Variants

Gene:SPAST
Variant:p.M87V
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SPAST

NM_014946.4:p.M87V

Associated Papers

Evaluation of loss of function as an explanation for SPG4-based hereditary spastic paraplegia.

Solowska JM et al.

Human Molecular Genetics, 2010

Spastin subcellular localization is regulated through usage of different translation start sites and active export from the nucleus.

Claudiani P et al.

Experimental Cell Research, 2005

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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."