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Population prevalence and inheritance pattern of recurrent CNVs associated with neurodevelopmental disorders in 12,252 newborns and their parents

Recurrent copy number variations (CNVs) are common causes of neurodevelopmental disorders (NDDs) and associated with a range of psychiatric traits. These CNVs occur at defined genomic regions that are particularly prone to recurrent deletions and duplications and often exhibit variable expressivity...

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Podrobná bibliografie
Vydáno v:Eur J Hum Genet
Hlavní autoři: Smajlagić, Dinka, Lavrichenko, Ksenia, Berland, Siren, Helgeland, Øyvind, Knudsen, Gun Peggy, Vaudel, Marc, Haavik, Jan, Knappskog, Per Morten, Njølstad, Pål Rasmus, Houge, Gunnar, Johansson, Stefan
Médium: Artigo
Jazyk:Inglês
Vydáno: Springer International Publishing 2020
Témata:
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC7852900/
https://ncbi.nlm.nih.gov/pubmed/32778765
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41431-020-00707-7
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