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Risk Variants in the Exomes of Children With Critical Illness

IMPORTANCE: Diagnostic genetic testing can lead to changes in management in the pediatric intensive care unit. Genetic risk in children with critical illness but nondiagnostic exome sequencing (ES) has not been explored. OBJECTIVE: To assess the association between loss-of-function (LOF) variants an...

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Detalles Bibliográficos
Autores principales: Motelow, Joshua E., Lippa, Natalie C., Hostyk, Joseph, Feldman, Evin, Nelligan, Matthew, Ren, Zhong, Alkelai, Anna, Milner, Joshua D., Gharavi, Ali G., Tang, Yingying, Goldstein, David B., Kernie, Steven G.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Medical Association 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9617179/
https://www.ncbi.nlm.nih.gov/pubmed/36306130
http://dx.doi.org/10.1001/jamanetworkopen.2022.39122