Varaico: Literature-Extracted Genetic Variants

Gene:SPAST
Variant:p.Y415_V416Splc
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SPAST

NM_014946.4:p.Y415_V416Splc

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

Implementation of Exome Sequencing in Clinical Practice for Neurological Disorders.

Alvarez-Mora MI et al.

Genes, 2023

37107571 (PubMed )
Supplement: genes-14-00813-s001.zip › genes-2265012-supplementary.pdf

Hereditary spastic paraplegia due to SPAST mutations in 151 Dutch patients: new clinical aspects and 27 novel mutations.

de Bot ST et al.

Journal of Neurology, Neurosurgery, and Psychiatry, 2010

Expansion of mutation spectrum, determination of mutation cluster regions and predictive structural classification of SPAST mutations in hereditary spastic paraplegia.

Shoukier M et al.

European Journal of Human Genetics : Ejhg, 2009

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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."