Varaico: Literature-Extracted Genetic Variants

Gene:SPAST
Variant:p.E366_L367Splc
Back to variants list

SPAST

NM_014946.4:p.E366_L367Splc

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

The mutational profile in a South African cohort with inherited neuropathies and spastic paraplegia.

Mahungu AC et al.

Frontiers in Neurology, 2023

Transposon clusters as substrates for aberrant splice-site activation.

Alvarez MEV et al.

Rna Biology, 2021

32965162 (PubMed )
Supplement: KRNB_A_1805909_SM0818.zip › Supplementary_information › Supplementary_Table_S1.pdf

Three novel mutations in 20 patients with hereditary spastic paraparesis.

Duz MB et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2018

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."