Varaico: Literature-Extracted Genetic Variants

Gene:SPAST
Variant:p.E43*
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SPAST

NM_014946.4:p.E43*

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

Phase separation as a possible mechanism for dosage sensitivity.

Yang L et al.

Genome Biology, 2024

38225666 (PubMed )
Supplement: 13059_2023_3128_MOESM3_ESM.xlsx › NMD-escaping_mutations

Clinical and genetic study of hereditary spastic paraplegia in Canada.

Chrestian N et al.

Neurology. Genetics, 2017

27957547 (PubMed )
Supplement: supp_3.1.e122_Table_e-1.xls › Feuil1
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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."