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Identification of paternal germline mosaicism by MicroSeq and targeted next‐generation sequencing

BACKGROUND: Prezygotic de novo mutations may be inherited from parents with germline mosaicism and are often overlooked when the resulting phenotype affects only one child. We aimed to identify paternal germline mosaicism in an index family and provide a strategy to determine germline mosaicism.‘ ME...

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Detalles Bibliográficos
Autores principales:	Dai, Congling, Cheng, Dehua, Li, Weina, Zeng, Sicong, Lu, Guangxiu, Zhang, Qianjun
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley and Sons Inc. 2020
Materias:	Original Articles
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7507370/ https://www.ncbi.nlm.nih.gov/pubmed/32643877 http://dx.doi.org/10.1002/mgg3.1394

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