Breakpoint mapping by next generation sequencing reveals causative gene disruption in patients carrying apparently balanced chromosome rearrangements with intellectual deficiency and/or congenital malformations

Published 2013 View Full Article

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Title
Breakpoint mapping by next generation sequencing reveals causative gene disruption in patients carrying apparently balanced chromosome rearrangements with intellectual deficiency and/or congenital malformations
Authors
Keywords
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Journal
JOURNAL OF MEDICAL GENETICS
Volume 50, Issue 3, Pages 144-150
Publisher
BMJ
Online
2013-01-13
DOI
10.1136/jmedgenet-2012-101351

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