Varaico: Literature-Extracted Genetic Variants

Gene:SPAST
Variant:p.R431R
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SPAST

NM_014946.4:p.R431R

Associated Papers

Spastic paraplegia in Romania: high prevalence of SPG4 mutations.

Orlacchio A et al.

Journal of Neurology, Neurosurgery, and Psychiatry, 2008

Three novel mutations of the spastin gene in Chinese patients with hereditary spastic paraplegia.

Tang B et al.

Archives of Neurology, 2004

[Spastin gene mutation in Chinese patients with hereditary spastic paraplegia].

Zhao GH et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2003

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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."