The relevance of deep genomic analyses in families with variably expressive CNVs in the era of personalized medicine

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TitreThe relevance of deep genomic analyses in families with variably expressive CNVs in the era of personalized medicine
Type de publicationJournal Article
Year of Publication2021
AuteursPizzo L, Jensen M, Tyryshkina A, Smolen C, Taylor C, Rohan L, Huber E, Snell P, Pope K, Pounraja VKumar, Rosenfeld J, McCready E, Zeesman S, Nowaczyk M, Schwartz C, Keren B, Perrine C, Prontera P, Van Dijck A, Kooy F, Caberg J-H, Voorhoeve E, Banka S, Sistermans E, Marle N, Renieri A, Martin-Coignard D, Isidor B, Reymond A, Mannik K, Andrieux J, Amor D, Romano C, Girirajan S
JournalMOLECULAR GENETICS AND METABOLISM
Volume132
PaginationS69
Date PublishedAPR
Type of ArticleMeeting Abstract
ISSN1096-7192