Associated Papers
Two Sibling Cases of Spastic Paraplegia-45 with a Novel Pathogenic Variant in NT5C2 Gene: Concomitant RYR1 Gene in One Sibling.
İpek R et al.
Molecular Syndromology, 2024
Pediatric T-ALL type-1 and type-2 relapses develop along distinct pathways of clonal evolution.
Richter-Pechańska P et al.
Leukemia, 2022
35585141 (PubMed )
Supplement: 41375_2022_1587_MOESM1_ESM.xlsx › Suppl.Tab.1
NUDT15 polymorphism and NT5C2 and PRPS1 mutations influence thiopurine sensitivity in acute lymphoblastic leukaemia cells.
Somazu S et al.
Journal of Cellular and Molecular Medicine, 2021
Exome Analysis Identified Novel Homozygous Splice Site Donor Alteration in NT5C2 Gene in a Saudi Family Associated With Spastic Diplegia Cerebral Palsy, Developmental Delay, and Intellectual Disability.
Naseer MI et al.
Frontiers in Genetics, 2020
NT5C2 novel splicing variant expands the phenotypic spectrum of Spastic Paraplegia (SPG45): case report of a new member of thin corpus callosum SPG-Subgroup.
Elsaid MF et al.
Bmc Medical Genetics, 2017
Whole genome sequencing identifies a novel homozygous exon deletion in the NT5C2 gene in a family with intellectual disability and spastic paraplegia.
Darvish H et al.
Npj Genomic Medicine, 2017
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