Varaico: Literature-Extracted Genetic Variants

Gene:SPAST
Variant:p.L426fs
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SPAST

NM_014946.4:p.L426fs

Associated Papers

Mutation analysis of SPAST, ATL1, and REEP1 in Korean Patients with Hereditary Spastic Paraplegia.

Kim TH et al.

Journal of Clinical Neurology (seoul, Korea), 2014

Spastic paraplegia in Romania: high prevalence of SPG4 mutations.

Orlacchio A et al.

Journal of Neurology, Neurosurgery, and Psychiatry, 2008

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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."