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The Iceberg under Water: Unexplored Complexity of Chromoanagenesis in Congenital Disorders

Structural variation, composed of balanced and unbalanced genomic rearrangements, is an important contributor to human genetic diversity with prominent roles in somatic and congenital disease. At the nucleotide level, structural variants (SVs) have been shown to frequently harbor additional breakpoi...

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Detalhes bibliográficos
Publicado no:Am J Hum Genet
Main Authors: Zepeda-Mendoza, Cinthya J., Morton, Cynthia C.
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2019
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6451730/
https://ncbi.nlm.nih.gov/pubmed/30951674
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2019.02.024
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