Case report: splicing effect of a novel heterozygous variant of the NUS1 gene in a child with epilepsy

NUS1 is responsible for encoding of the Nogo-B receptor (NgBR), which is a subunit of cis-prenyltransferase. Over 25 variants in NUS1 have been reported, and these variants have been found to be associated with various phenotypes, such as congenital disorders of glycosylation (CDG) and developmental...

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Detalles Bibliográficos
Autores principales: Hu, Yan, Huang, Mingwei, Wen, Jialun, Gao, Jian, Long, Weiwei, Shen, Yansheng, Zeng, Qi, Chen, Yan, Zhang, Tian, Liao, Jianxiang, Liu, Qiuli, Li, Nannan, Lin, Sufang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10352580/
https://www.ncbi.nlm.nih.gov/pubmed/37470039
http://dx.doi.org/10.3389/fgene.2023.1224949

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10352580/
https://www.ncbi.nlm.nih.gov/pubmed/37470039
http://dx.doi.org/10.3389/fgene.2023.1224949

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