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Evaluation and classification of severity for 176 genes on an expanded carrier screening panel
BACKGROUND: Disease severity is important when considering genes for inclusion on reproductive expanded carrier screening (ECS) panels. We applied a validated and previously published algorithm that classifies diseases into four severity categories (mild, moderate, severe, and profound) to 176 genes...
Gorde:
| Argitaratua izan da: | Prenat Diagn |
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| Egile Nagusiak: | , , , , , , , , , , , , , , , , , |
| Formatua: | Artigo |
| Hizkuntza: | Inglês |
| Argitaratua: |
John Wiley & Sons, Ltd.
2020
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| Gaiak: | |
| Sarrera elektronikoa: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7540025/ https://ncbi.nlm.nih.gov/pubmed/32474937 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/pd.5762 |
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