Reconstruction of complex genomic rearrangements with 3rd generation sequencing in rare diseases: two chromothripsis cases

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TitreReconstruction of complex genomic rearrangements with 3rd generation sequencing in rare diseases: two chromothripsis cases
Type de publicationJournal Article
Year of Publication2020
AuteursVerdez S., Duffourd Y., Tisserant E., Plagos A., Bruel A., F. Mau-Them T, Philippe C., Thauvin C., Faivre L., Chatron N., Schluth-Bolard C., Callier P., Sanlaville D., Vitobello A.
JournalEUROPEAN JOURNAL OF HUMAN GENETICS
Volume28
Pagination592
Date PublishedDEC
Type of ArticleMeeting Abstract
ISSN1018-4813