article_metadata: Meizhen Shi Yuying Liang Bobo Xie Xianda Wei Haiyang Zheng Chunrong Gui Rong Huang Xin Fan Chuan Li Xiaojiao Wei Yunting Ma Shaoke Chen Yujun Chen Baoheng Gui
article_metadata: 10.3389/fgene.2022.1056127
article_metadata: Front Genet
article_metadata: 2022 Nov 23;13:1056127.
article_metadata: nipbl cornelia de lange syndrome non-canonical splice donor synonymous variant whole-exome sequencing
article_metadata: CC BY
article_metadata: https://pubmed.ncbi.nlm.nih.gov/36506332/
article_metadata: Case Reports
article_metadata: PMC9726764
article_metadata: 36506332
article_metadata: Case report: A novel heterozygous synonymous variant in deep exon region of NIPBL gene generating a non-canonical splice donor in a patient with cornelia de lange syndrome
article_metadata: 2022