Accurate Distinction of Pathogenic from Benign CNVs in Mental Retardation

Copy number variants (CNVs) have recently been recognized as a common form of genomic variation in humans. Hundreds of CNVs can be detected in any individual genome using genomic microarrays or whole genome sequencing technology, but their phenotypic consequences are still poorly understood. Rare CN...

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Autors principals: Hehir-Kwa, Jayne Y., Wieskamp, Nienke, Webber, Caleb, Pfundt, Rolph, Brunner, Han G., Gilissen, Christian, de Vries, Bert B. A., Ponting, Chris P., Veltman, Joris A.
Format: Artigo
Idioma:Inglês
Publicat: Public Library of Science 2010
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Research Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC2858682/
https://ncbi.nlm.nih.gov/pubmed/20421931
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pcbi.1000752
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