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CNV and nervous system diseases – what's new?

Several new genomic disorders caused by copy number variation (CNV) of genes whose dosage is critical for the physiological function of the nervous system have been recently identified. Dup(7)(q11.23) patients carry duplications of the genomic region deleted in Williams-Beuren syndrome, they are cha...

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Détails bibliographiques
Auteurs principaux: Gu, W., Lupski, J.R.
Format: Artigo
Langue:Inglês
Publié: S. Karger AG 2009
Sujets:
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC2920183/
https://ncbi.nlm.nih.gov/pubmed/19287139
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000184692
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