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Genomic sequencing identifies secondary findings in a cohort of parent study participants
PURPOSE: Clinically relevant secondary variants were identified in parents enrolled with a child with developmental delay and intellectual disability. METHODS: Exome/genome sequencing and analysis of 789 ‘unaffected’ parents was performed. RESULTS: Pathogenic/likely pathogenic variants were identifi...
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| Publicado en: | Genet Med |
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| Main Authors: | , , , , , , , , , , , , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado: |
2018
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| Assuntos: | |
| Acceso en liña: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6185813/ https://ncbi.nlm.nih.gov/pubmed/29790872 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/gim.2018.53 |
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