Fletta eftir efnisorði "Copy number variant"

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Reciprocal White Matter Changes Associated With Copy Number Variation at 15q11.2 BP1-BP2: A Diffusion Tensor Imaging Study

Silva, Ana I.; Ulfarsson, Magnus; Stefansson, Hreinn; Gústafsson, Ómar; Walters, G. Bragi; Linden, David E.J.; Wilkinson, Lawrence S.; Drakesmith, Mark; Owen, Michael J.; Hall, Jeremy; Stefansson, Kari (Elsevier BV, 2019-04-01)

Background: The 15q11.2 BP1-BP2 cytogenetic region has been associated with learning and motor delays, autism, and schizophrenia. This region includes a gene that codes for the cytoplasmic FMR1 interacting protein 1 (CYFIP1). The CYFIP1 protein is ...