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Large mosaic copy number variations confer autism risk

Although germline de novo copy number variants are known causes of autism spectrum disorder (ASD), the contribution of mosaic (early-developmental) copy number variants (mCNVs) has not been explored. Here, we assessed the contribution of mCNVs to ASD by ascertaining mCNVs in genotype array intensity...

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Detalles Bibliográficos
Autores principales: Sherman, Maxwell A., Rodin, Rachel E., Genovese, Giulio, Dias, Caroline, Barton, Alison R., Mukamel, Ronen E., Berger, Bonnie, Park, Peter J., Walsh, Christopher A., Loh, Po-Ru
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7854495/
https://www.ncbi.nlm.nih.gov/pubmed/33432194
http://dx.doi.org/10.1038/s41593-020-00766-5