Article révisé par les pairs
Titre:
  • Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses.
Auteur:Demidov, German; Yaldiz, Burcu; Garcia-Pelaez, José; de Boer, Elke; Schuermans, Nika; Van de Vondel, Liedewei; Paramonov, Ida; Johansson, Lennart F; Musacchia, Francesco; Benetti, Elisa; Bullich, Gemma; Sablauskas, Karolis; Beltran, Sergi; Gilissen, Christian; Hoischen, Alexander; Solve-RD Consortium, Sarah; Duerinckx, Stephan; Ossowski, Richarda; de Voer, Katja; Lohmann, Carla; Oliveira, Ana; Topf, Lisenka E L M LELM; Vissers, Steven; Laurie,
Informations sur la publication:NPJ genomic medicine, 9, 1, page (49)
Statut de publication:Publié, 2024-10-01
Sujet CREF:Sciences bio-médicales et agricoles
Langue:Anglais
Identificateurs:urn:issn:2056-7944
info:doi/10.1038/s41525-024-00436-6
info:pii/10.1038/s41525-024-00436-6
info:pmid/39461972
PMC11513043

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