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The importance of copy number variation in congenital heart disease

Congenital heart disease (CHD) is the most common class of major malformations in humans. The historical association with large chromosomal abnormalities foreshadowed the role of submicroscopic rare copy number variations (CNVs) as important genetic causes of CHD. Recent studies have provided robust...

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Detalles Bibliográficos
Autores principales: Costain, Gregory, Silversides, Candice K, Bassett, Anne S
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2016
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5505728/
https://www.ncbi.nlm.nih.gov/pubmed/28706735
http://dx.doi.org/10.1038/npjgenmed.2016.31