Varaico: Literature-Extracted Genetic Variants

Gene:SPAST
Variant:p.R498Splc
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SPAST

NM_014946.4:p.R498Splc

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

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

Svenson IK et al.

Neurogenetics, 2004

Identification and expression analysis of spastin gene mutations in hereditary spastic paraplegia.

Svenson IK et al.

American Journal of Human Genetics, 2001

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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."