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Revealing parental mosaicism: the hidden answer to the recurrence of apparent de novo variants

Mosaicism refers to the presence of two or more populations of genetically distinct cells within an individual, all of which originate from a single zygote. Previous literature estimated the percentage of parental mosaicism ranged from 0.33 to 25.9%. In this study, parents whose children had previou...

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Detalles Bibliográficos
Autores principales: Lee, Mianne, Lui, Adrian C. Y., Chan, Joshua C. K., Doong, Phoenix H. L., Kwong, Anna K. Y., Mak, Christopher C. Y., Li, Raymond H. W., Kan, Anita S. Y., Chung, Brian H. Y.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10557286/
https://www.ncbi.nlm.nih.gov/pubmed/37798624
http://dx.doi.org/10.1186/s40246-023-00535-y