Deciphering complex genomic rearrangements by traveling through 3rd generation sequencing in rare diseases: two chromothripsis cases

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TitreDeciphering complex genomic rearrangements by traveling through 3rd generation sequencing in rare diseases: two chromothripsis cases
Type de publicationJournal Article
Year of Publication2019
AuteursVerdez S., Duffourd Y., Tisserant E., Marle N., Bruel A., F. Mau-Them T, Philippe C., Thauvin-Robinet C., Faivre L., Chatron N., Schluth-Bolard C., Callier P., Damien S., Vitobello A.
JournalEUROPEAN JOURNAL OF HUMAN GENETICS
Volume27
Pagination1692-1693
Date PublishedOCT
Type of ArticleMeeting Abstract
ISSN1018-4813