Varaico: Literature-Extracted Genetic Variants

Gene:SPAST
Variant:p.R451_E454del4
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SPAST

NM_014946.4:p.R451_E454del4

Associated Papers

Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.

Zhi Y et al.

Cns Neuroscience & Therapeutics, 2025

39932116 (PubMed )
Supplement: CNS-31-e70260-s001.xlsx › SPG4

Reduced acetylated α-tubulin in SPAST hereditary spastic paraplegia patient PBMCs.

Wali G et al.

Frontiers in Neuroscience, 2023

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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."