Associated Papers
Novel Frameshift Heterozygous Mutation in UBAP1 Gene Causing Spastic Paraplegia-80: Case Report With Literature Review.
Zhang C et al.
Frontiers in Neurology, 2022
A novel mutation in the UBAP1 gene causing hereditary spastic paraplegia: A case report and overview of the genotype-phenotype correlation.
Li P et al.
Frontiers in Genetics, 2022
Identification of UBAP1 mutations in juvenile hereditary spastic paraplegia in the 100,000 Genomes Project.
Bourinaris T et al.
European Journal of Human Genetics : Ejhg, 2020
32934340 (PubMed )
Supplement: 41431_2020_720_MOESM1_ESM.xlsx › Supplementary_Table_1
Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia.
Farazi Fard MA et al.
American Journal of Human Genetics, 2019
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