Varaico: Literature-Extracted Genetic Variants

Gene:SPAST
Variant:p.E137delFs
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SPAST

NM_014946.4:p.E137delFs

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

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."