PhenomeGene — Human Disease Gene Website SeriesNT5C2

Publications

Naseer MI et al. 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. Front Genet. 2020 Feb 21;11:14. PMID: 32153630.

Darvish H et al. Whole genome sequencing identifies a novel homozygous exon deletion in the NT5C2 gene in a family with intellectual disability and spastic paraplegia.NPJ Genomic Med. 2017 2, 20. PMID:29123918.

Elsaid M et al. NT5C2 novel splicing variant expands the phenotypic spectrum of Spastic Paraplegia (SPG45): case report of a new member of thin corpus callosum SPG-subgroup.BMC Med. Genet. 2017 18, 33. PMID: 28327087.