Association of congenital cardiovascular malformation and neuropsychiatric phenotypes with 15q11.2 (BP1–BP2) deletion in the UK Biobank

Deletion of a non-imprinted 500kb genomic region at chromosome 15q11.2, between breakpoints 1 and 2 of the Prader–Willi/Angelman locus (BP1–BP2 deletion), has been associated in previous studies with phenotypes including congenital cardiovascular malformations (CVM). Previous studies investigating a...

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Gepubliceerd in:Eur J Hum Genet
Hoofdauteurs: Williams, Simon G., Nakev, Apostol, Guo, Hui, Frain, Simon, Tenin, Gennadiy, Liakhovitskaia, Anna, Saha, Priyanka, Priest, James R., Hentges, Kathryn E., Keavney, Bernard D.
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: Springer International Publishing 2020
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Article
Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC7608352/
https://ncbi.nlm.nih.gov/pubmed/32327713
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41431-020-0626-8
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