Varaico: Literature-Extracted Genetic Variants

Gene:SPAST
Variant:p.L86F
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SPAST

NM_014946.4:p.L86F

Associated Papers

FBXL17/spastin axis as a novel therapeutic target of hereditary spastic paraplegia.

Kang HM et al.

Cell & Bioscience, 2022

35869491 (PubMed )
Supplement: 13578_2022_851_MOESM2_ESM.docx

Intragenic modifiers of hereditary spastic paraplegia due to spastin gene mutations.

Svenson IK et al.

Neurogenetics, 2004

Mutation analysis of the spastin gene (SPG4) in patients with hereditary spastic paraparesis.

Lindsey JC et al.

Journal of Medical Genetics, 2000

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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."