Varaico: Literature-Extracted Genetic Variants

Gene:SPAST
Variant:p.A95fs
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SPAST

NM_014946.4:p.A95fs

Associated Papers

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

Kang HM et al.

Cell & Bioscience, 2022

Novel mutations in the SPAST gene cause hereditary spastic paraplegia.

Zhu Z et al.

Parkinsonism & Related Disorders, 2019

Mutational Spectrum of Spast (Spg4) and Atl1 (Spg3a) Genes In Russian Patients With Hereditary Spastic Paraplegia.

Kadnikova VA et al.

Scientific Reports, 2019

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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."