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The Growing Importance of CNVs: New Insights for Detection and Clinical Interpretation

Differences between genomes can be due to single nucleotide variants, translocations, inversions, and copy number variants (CNVs, gain or loss of DNA). The latter can range from sub-microscopic events to complete chromosomal aneuploidies. Small CNVs are often benign but those larger than 500 kb are...

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Detalhes bibliográficos
Main Authors: Valsesia, Armand, Macé, Aurélien, Jacquemont, Sébastien, Beckmann, Jacques S., Kutalik, Zoltán
Formato: Artigo
Idioma:Inglês
Publicado em: Frontiers Media S.A. 2013
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3667386/
https://ncbi.nlm.nih.gov/pubmed/23750167
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fgene.2013.00092
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