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The multiple de novo copy number variant (MdnCNV) phenomenon presents with peri-zygotic DNA mutational signatures and multilocus pathogenic variation
Haowei Du, Angad Jolly, Christopher M. Grochowski, Bo Yuan, Moez Dawood, Shalini N. Jhangiani, He Li, Donna Muzny, Jawid M. Fatih, Zeynep Coban-Akdemir, Mary Esther Carlin, Angela E. Scheuerle, Karin Witzl, Jennifer E. Posey, Matthew Pendleton, Eoghan Harrington, Sissel Juul, P. J. Hastings, Weimin Bi, Richard A. Gibbs, Fritz J. Sedlazeck, James R. Lupski, Claudia M. B. Carvalho, Pengfei Liu
Genome Med. 2022; 14: 122. Published online 2022 Oct 27. doi: 10.1186/s13073-022-01123-w
PMCID:
PMC9609164
AbstractArticlePDF–2.2M

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