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Phenotypic variability and genetic susceptibility to genomic disorders

The duplication architecture of the human genome predisposes our species to recurrent copy number variation and disease. Emerging data suggest that this mechanism of mutation contributes to both common and rare diseases. Two features regarding this form of mutation have emerged. First, common struct...

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Detalhes bibliográficos
Main Authors: Girirajan, Santhosh, Eichler, Evan E.
Formato: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2010
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2953748/
https://ncbi.nlm.nih.gov/pubmed/20807775
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddq366
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