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
10.3389/fgene.2022.1056127
Front Genet
2022 Nov 23;13:1056127.
nipbl cornelia de lange syndrome non-canonical splice donor synonymous variant whole-exome sequencing
CC BY
https://pubmed.ncbi.nlm.nih.gov/36506332/
Case Reports
PMC9726764
36506332
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
2022