Varaico: Literature-Extracted Genetic Variants

Gene:SPAST
Variant:p.P435L
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SPAST

NM_014946.4:p.P435L

Associated Papers

Structural brain changes contributing to motor signs in pure hereditary spastic paraplegia type 4.

Piervincenzi C et al.

Journal of Neurology, 2025

Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.

Zhi Y et al.

Cns Neuroscience & Therapeutics, 2025

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

The investigation of genetic and clinical features in patients with hereditary spastic paraplegia in central-Southern China.

Wang C et al.

Molecular Genetics & Genomic Medicine, 2021

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

Genetic background of the hereditary spastic paraplegia phenotypes in Hungary - An analysis of 58 probands.

Balicza P et al.

Journal of the Neurological Sciences, 2016

Novel spastin (SPG4) mutations in Italian patients with hereditary spastic paraplegia.

Magariello A et al.

Neuromuscular Disorders : Nmd, 2006

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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."