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Challenges in screening for de novo noncoding variants contributing to genetically complex phenotypes

Understanding the genetic basis for complex, heterogeneous disorders, such as autism spectrum disorder (ASD), is a persistent challenge in human medicine. Owing to their phenotypic complexity, the genetic mechanisms underlying these disorders may be highly variable across individual patients. Furthe...

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Detalles Bibliográficos
Autores principales: Castro, Christopher P., Diehl, Adam G., Boyle, Alan P.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10248550/
https://www.ncbi.nlm.nih.gov/pubmed/37305558
http://dx.doi.org/10.1016/j.xhgg.2023.100210

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