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Clinical interpretation of copy number variants in the human genome
Molecular methods, by which copy number variants (CNVs) detection is available, have been gradually introduced into routine diagnostics over the last 15 years. Despite this, some CNVs continue to be a huge challenge when it comes to clinical interpretation. CNVs are an important source of normal and...
Autor principal: | Nowakowska, Beata |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Springer Berlin Heidelberg
2017
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655614/ https://www.ncbi.nlm.nih.gov/pubmed/28963714 http://dx.doi.org/10.1007/s13353-017-0407-4 |
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