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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...
| Autores principales: | , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
John Wiley and Sons Inc.
2020
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| Materias: | |
| 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 |