Varaico: Literature-Extracted Genetic Variants

Gene:SPAST
Variant:p.E512_T513Splc
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SPAST

NM_014946.4:p.E512_T513Splc

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

Performance evaluation of differential splicing analysis methods and splicing analytics platform construction.

Li K et al.

Nucleic Acids Research, 2022

35993808 (PubMed )
Supplement: gkac686_supplemental_files.zip › Table_S4_The_positive_and_negative_splicing_variants_benchmarker.xlsx › ROC

Novel mutations in the SPAST gene cause hereditary spastic paraplegia.

Zhu Z et al.

Parkinsonism & Related Disorders, 2019

Truncating mutations in SPAST patients are associated with a high rate of psychiatric comorbidities in hereditary spastic paraplegia.

Chelban V et al.

Journal of Neurology, Neurosurgery, and Psychiatry, 2017

28572275 (PubMed )
Supplement: jnnp-2017-315796supp001.pdf
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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."