article_metadata: Yan Hu Mingwei Huang Jialun Wen Jian Gao Weiwei Long Yansheng Shen Qi Zeng Yan Chen Tian Zhang Jianxiang Liao Qiuli Liu Nannan Li Sufang Lin
article_metadata: 10.3389/fgene.2023.1224949
article_metadata: Front Genet
article_metadata: 2023 Jul 4;14:1224949.
article_metadata: nus1 aberrant splicing case report epilepsy trio-wes
article_metadata: CC BY
article_metadata: https://pubmed.ncbi.nlm.nih.gov/37470039/
article_metadata: Case Reports
article_metadata: PMC10352580
article_metadata: 37470039
article_metadata: Case report: splicing effect of a novel heterozygous variant of the NUS1 gene in a child with epilepsy
article_metadata: 2023