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The causality of de novo copy number variants is overestimated.

作者信息

Vermeesch Joris R, Balikova Irina, Schrander-Stumpel Connie, Fryns Jean-Pierre, Devriendt Koenraad

出版信息

Eur J Hum Genet. 2011 Nov;19(11):1112-3. doi: 10.1038/ejhg.2011.83. Epub 2011 May 18.

Abstract
摘要

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本文引用的文献

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High frequency of submicroscopic chromosomal deletions in patients with idiopathic congenital eye malformations.
Am J Ophthalmol. 2011 Jun;151(6):1087-1094.e45. doi: 10.1016/j.ajo.2010.11.025. Epub 2011 Feb 25.
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De novo rates and selection of large copy number variation.
Genome Res. 2010 Nov;20(11):1469-81. doi: 10.1101/gr.107680.110. Epub 2010 Sep 14.
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Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome.
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