Article: article from journal or magazin.
Review (review): journal as complete as possible of one specific subject, written based on exhaustive analyses from published work.
CNVs and genetic medicine (excitement and consequences of a rediscovery).
Cytogenetic and Genome Research
Publication types: Journal Article ; Review
The extensive variability of individual human genomes contributes to phenotypic variability. Structural genomic variants, and copy number variants (CNVs) in particular, have recently been rediscovered as contributors to the genomic plasticity and evolution and as pathoetiologic elements for both monogenic and complex traits. Herein we review some of the consequences of CNVs in the context of human inherited diseases.
Drug Discovery, Gene Dosage, Genetic Predisposition to Disease, Genome, Humans, Pharmaceutical Preparations, Polymorphism, Single Nucleotide
Web of science
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