Varaico: Literature-Extracted Genetic Variants

Gene:SPAST
Variant:p.A428P
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SPAST

NM_014946.4:p.A428P

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

Mild cognitive dysfunction in hereditary spastic paraplegia 4 disease related to fluorodesoxyglucose cerebral positron emission tomography.

Miroglio R et al.

Brain Communications, 2025

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

Sandate CR et al.

Nature Structural & Molecular Biology, 2019

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

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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."