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Identification of De Novo Chromosomal Translocations Disrupting NIPBL in a Patient with Cornelia De Lange Syndrome by Full Genome Analysis.

Hsiao-Jung Kao, Elin H F Wang, Erh-Chan Yeh,Hsiao-Huei Chen, Feng-Jen Hsieh, Tsang-Ming Ko, Wuh-Liang Hwu,Pui-Yan Kwok, Ni-Chung Lee

Molecular genetics & genomic medicine（2025）

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