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A novel mosaic variant on SMC1A reported in buccal mucosa cells, albeit not in blood, of a patient with Cornelia de Lange-like presentation.

Gonzalez Garcia A, Malone J, Li H. A novel mosaic variant on SMC1A reported in buccal mucosa cells, albeit not in blood, of a patient with Cornelia de Lange-like presentation. Cold Spring Harb Mol Case Stud. 2020 06; 6(3).

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