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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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Detalles Bibliográficos
Publicado en:Am J Hum Genet
Main Authors: Zepeda-Mendoza, Cinthya J., Morton, Cynthia C.
Formato: Artigo
Idioma:Inglês
Publicado: Elsevier 2019
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Acceso en liña: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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