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- Title
Deep intronic NIPBL de novo mutations and differential diagnoses revealed by whole genome and RNA sequencing in Cornelia de Lange syndrome patients.
- Authors
Coursimault, Juliette; Cassinari, Kévin; Lecoquierre, François; Quenez, Olivier; Coutant, Sophie; Derambure, Céline; Vezain, Myriam; Drouot, Nathalie; Vera, Gabriella; Schaefer, Elise; Philippe, Anaïs; Doray, Bérénice; Lambert, Laëtitia; Ghoumid, Jamal; Smol, Thomas; Rama, Mélanie; Legendre, Marine; Lacombe, Didier; Fergelot, Patricia; Olaso, Robert
- Publication
Human Mutation, 2022, Vol 43, Issue 12, p1882
- ISSN
1059-7794
- Publication type
Article
- DOI
10.1002/humu.24438