Varaico: Literature-Extracted Genetic Variants

Gene:SPAST
Variant:p.K393*
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SPAST

NM_014946.4:p.K393*

Associated Papers

Clinical features and genetic spectrum of Chinese patients with hereditary spastic paraplegia: A 14-year study.

Yu W et al.

Frontiers in Genetics, 2023

Screening for REEP1 Mutations in 31 Chinese Hereditary Spastic Paraplegia Families.

Ma X et al.

Frontiers in Neurology, 2020

Sequence variants in SPAST, SPG3A and HSPD1 in hereditary spastic paraplegia.

Svenstrup K et al.

Journal of the Neurological Sciences, 2009

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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."