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Copy number variation at the 7q11.23 segmental duplications is a susceptibility factor for the Williams-Beuren syndrome deletion

Large copy number variants (CNVs) have been recently found as structural polymorphisms of the human genome of still unknown biological significance. CNVs are significantly enriched in regions with segmental duplications or low-copy repeats (LCRs). Williams-Beuren syndrome (WBS) is a neurodevelopment...

पूर्ण विवरण

में बचाया:
ग्रंथसूची विवरण
मुख्य लेखकों: Cuscó, Ivon, Corominas, Roser, Bayés, Mònica, Flores, Raquel, Rivera-Brugués, Núria, Campuzano, Victoria, Pérez-Jurado, Luis A.
स्वरूप: Artigo
भाषा:Inglês
प्रकाशित: Cold Spring Harbor Laboratory Press 2008
विषय:
ऑनलाइन पहुंच:https://ncbi.nlm.nih.gov/pmc/articles/PMC2336808/
https://ncbi.nlm.nih.gov/pubmed/18292220
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1101/gr.073197.107
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