Varaico: Literature-Extracted Genetic Variants

Gene:VPS4A
Variant:p.S362C
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VPS4A

NM_013245.3:p.S362C

Associated Papers

Spastin, the protein mutated in autosomal dominant hereditary spastic paraplegia, is involved in microtubule dynamics.

Errico A et al.

Human Molecular Genetics, 2002

Spastin, a new AAA protein, is altered in the most frequent form of autosomal dominant spastic paraplegia.

Hazan J et al.

Nature Genetics, 1999

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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."