Non-coding Variants Are a Rare Cause of Recessive Developmental Disorders in Trans with Coding Variants

Jenny Lord,Carolina J. Oquendo,Htoo A. Wai,John G. Holloway,Alexandra Martin-Geary,Alexander JM. Blakes,Elena Arciero,Silvia Domcke,Anne-Marie Childs,Karen Low,Julia Rankin,Diana Baralle,Hilary C. Martin,Nicola Whiffin

Genetics in medicine official journal of the American College of Medical Genetics（2024）

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rare disorders,genomics,recessive disorders,clinical genetic testing

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