Varaico: Literature-Extracted Genetic Variants

Gene:SPAST
Variant:p.R459T
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SPAST

NM_014946.4:p.R459T

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

An allosteric network in spastin couples multiple activities required for microtubule severing.

Sandate CR et al.

Nature Structural & Molecular Biology, 2019

31285604 (PubMed )
Supplement: NIHMS1530257-supplement-3.pdf

Mental deficiency in three families with SPG4 spastic paraplegia.

Ribaï P et al.

European Journal of Human Genetics : Ejhg, 2008

Autosomal dominant hereditary spastic paraplegia: DHPLC-based mutation analysis of SPG4 reveals eleven novel mutations.

Patrono C et al.

Human Mutation, 2005

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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."