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Complex and multi-allelic copy number variation in human disease

Hundreds of copy number variants are complex and multi-allelic, in that they have many structural alleles and have rearranged multiple times in the ancestors who contributed chromosomes to current humans. Not only are the relationships of these multi-allelic CNVs (mCNVs) to phenotypes generally unkn...

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Détails bibliographiques
Publié dans:Brief Funct Genomics
Auteurs principaux: Usher, Christina L., McCarroll, Steven A.
Format: Artigo
Langue:Inglês
Publié: Oxford University Press 2015
Sujets:
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC4576757/
https://ncbi.nlm.nih.gov/pubmed/26163405
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/bfgp/elv028
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