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The association of DNA copy-number variation (CNV) with specific gene function and ... Current challenges involve developing methods not only for detecting and ... was that an additional copy of chromosome 21 was associated with Down's syndrome, and ... Ylstra B, van den Ijssel P, Carvalho B, Brakenhoff RH, Meijer GA.
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URI: http://dspace.nbuv.gov.ua/handle/123456789/126783 ... alphoid DNA variation, and sociogenetic features of Down syndrome / S.G. Vorsanova, ... as well as exposure to irradiation, alcohol, tobacco, mutagenic substances was not found.
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21 Feb 2020 ... ... use of our site with our social media, advertising and analytics partners in ... Particularly convincing is the role of de novo CNVs, with recent estimates that ∼80% of the individuals with a de novo CNV and an ASD diagnosis would not ... PsychArray allows a reliable detection of genic CNVs down to 10 kb.