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Next-Generation Sequencing of Duplication CNVs Reveals that Most Are Tandem and Some Create Fusion Genes at Breakpoints

Interpreting the genomic and phenotypic consequences of copy-number variation (CNV) is essential to understanding the etiology of genetic disorders. Whereas deletion CNVs lead obviously to haploinsufficiency, duplications might cause disease through triplosensitivity, gene disruption, or gene fusion...

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Bibliografische gegevens
Gepubliceerd in:Am J Hum Genet
Hoofdauteurs: Newman, Scott, Hermetz, Karen E., Weckselblatt, Brooke, Rudd, M. Katharine
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: Elsevier 2015
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Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4320257/
https://ncbi.nlm.nih.gov/pubmed/25640679
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2014.12.017
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