Varaico: Literature-Extracted Genetic Variants

Gene:SPAST
Variant:p.D456G
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SPAST

NM_014946.4:p.D456G

Associated Papers

Clinical and genetic study of hereditary spastic paraplegia in Canada.

Chrestian N et al.

Neurology. Genetics, 2017

27957547 (PubMed )
Supplement: supp_3.1.e122_Table_e-1.xls › Feuil1

Hereditary ataxia, spastic paraparesis and neuropathy in the French-Canadian population.

Dupré N et al.

The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques, 2006

Identification and expression analysis of spastin gene mutations in hereditary spastic paraplegia.

Svenson IK et al.

American Journal of Human Genetics, 2001

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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."