Understanding the impact of 1q21.1 copy number variant

BACKGROUND: 1q21.1 Copy Number Variant (CNV) is associated with a highly variable phenotype ranging from congenital anomalies, learning deficits/intellectual disability (ID), to a normal phenotype. Hence, the clinical significance of this CNV can be difficult to evaluate. Here we described the conse...

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Dades bibliogràfiques
Autors principals: Harvard, Chansonette, Strong, Emma, Mercier, Eloi, Colnaghi, Rita, Alcantara, Diana, Chow, Eva, Martell, Sally, Tyson, Christine, Hrynchak, Monica, McGillivray, Barbara, Hamilton, Sara, Marles, Sandra, Mhanni, Aziz, Dawson, Angelika J, Pavlidis, Paul, Qiao, Ying, Holden, Jeanette J, Lewis, Suzanne ME, O'Driscoll, Mark, Rajcan-Separovic, Evica
Format: Artigo
Idioma:Inglês
Publicat: BioMed Central 2011
Matèries:
Research
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3180300/
https://ncbi.nlm.nih.gov/pubmed/21824431
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1750-1172-6-54
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