The impact of 22q11.2 copy-number variants on human traits in the general population

While extensively studied in clinical cohorts, the phenotypic consequences of 22q11.2 copy-number variants (CNVs) in the general population remain understudied. To address this gap, we performed a phenome-wide association scan in 405,324 unrelated UK Biobank (UKBB) participants by using CNV calls fr...

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Detalles Bibliográficos
Autores principales: Zamariolli, Malú, Auwerx, Chiara, Sadler, Marie C., van der Graaf, Adriaan, Lepik, Kaido, Schoeler, Tabea, Moysés-Oliveira, Mariana, Dantas, Anelisa G., Melaragno, Maria Isabel, Kutalik, Zoltán
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9943723/
https://www.ncbi.nlm.nih.gov/pubmed/36706759
http://dx.doi.org/10.1016/j.ajhg.2023.01.005

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