Targeted Next-Generation Sequencing in the Molecular Diagnosis of Severe Combined Immunodeficiency
<i>Background and Objectives</i>: Severe combined immunodeficiency (SCID) represents a group of rare and potentially fatal monogenic disorders arising from pathogenic variants in a broad spectrum of genes. Diagnostic delays beyond the first few months of life have been associated with poor overall s...
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| Autors principals: | , , , , , , , , , , , , , |
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| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
MDPI AG
2025-09-01
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| Col·lecció: | Medicina |
| Matèries: | |
| Accés en línia: | https://www.mdpi.com/1648-9144/61/9/1644 |
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