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Structural Variation Mutagenesis of the Human Genome: Impact on Disease and Evolution

Watson-Crick base-pair changes, or single-nucleotide variants (SNV), have long been known as a source of mutations. However, the extent to which DNA structural variation, including duplication and deletion copy number variants (CNV) and copy number neutral inversions and translocations, contribute t...

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Detalles Bibliográficos
Publicado en:Environ Mol Mutagen
Autor Principal: Lupski, James R.
Formato: Artigo
Idioma:Inglês
Publicado: 2015
Assuntos:
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC4609214/
https://ncbi.nlm.nih.gov/pubmed/25892534
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/em.21943
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