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Copy number variants (CNVs) analysis in a deeply phenotyped cohort of individuals with intellectual disability (ID)

BACKGROUND: DNA copy number variants (CNVs) are found in 15% of subjects with ID but their association with phenotypic abnormalities has been predominantly studied in smaller cohorts of subjects with detailed yet non-systematically categorized phenotypes, or larger cohorts (thousands of cases) with...

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Autors principals: Qiao, Ying, Mercier, Eloi, Dastan, Jila, Hurlburt, Jane, McGillivray, Barbara, Chudley, Albert E, Farrell, Sandra, Bernier, Francois P, Lewis, ME Suzanne, Pavlidis, Paul, Rajcan-Separovic, Evica
Format: Artigo
Idioma:Inglês
Publicat: BioMed Central 2014
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4107469/
https://ncbi.nlm.nih.gov/pubmed/25030379
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2350-15-82
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