Noncoding variants are a rare cause of recessive developmental disorders in trans with coding variants

Autor: Lord, Jenny, Oquendo, Carolina J., Wai, Htoo A., Holloway, John G., Martin-Geary, Alexandra, Blakes, Alexander J.M., Arciero, Elena, Domcke, Silvia, Childs, Anne-Marie, Low, Karen, Rankin, Julia, Baralle, Diana, Martin, Hilary C., Whiffin, Nicola
Zdroj: In Genetics in Medicine August 2024
Databáze: ScienceDirect