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Models of four CDH probands with inherited, germline, and somatic de novo variants, including coding, gene-associated (but non-coding), and non-gene-associated SNVs, indels, and SVs
Each model highlights the genetic complexity and heterogeneity underlying CDH. Z, zygote; SD, skin-diaphragm progenitor; SB, skin-blood progenitor; DB, diaphragm-blood progenitor; S, skin cell; D, diaphragm cell; B, blood cell.
