| Autor: |
Cook, Sabina, Dunn, Emily, Kornish, Jenna, Calderwood, Laurel, Campion, MaryAnn, Cusmano-Ozog, Kristina P., Tise, Christina G. |
| Zdroj: |
Genetics in Medicine; 20230101, Issue: Preprints |
| Abstrakt: |
Expanded carrier screening (ECS) gene panels have several limitations including variable content, current knowledge of disease-causing variants, and differing reporting policies. This study evaluated if the disease-associated variants identified in affected neonates who screened positive by California newborn screening (NBS) for an inherited metabolic disorder (IMD) by tandem mass spectrometry (MS/MS) would likely be reported by ECS gene panels. |
| Databáze: |
Supplemental Index |
| Externí odkaz: |
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