Resolving Diagnostic Uncertainty in Neurodevelopmental Disorders Using Exome Sequencing Supported by Literature-Based Multi-Omics Evidence
<i>Background</i>: Neurodevelopmental disorders (NDDs) are genetically heterogeneous, and exome sequencing (ES) is now a first-line diagnostic tool. However, many patients receive variants of uncertain significance (VUSs) or inherited variants with incomplete penetrance, limiting clinical interpreta...
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| Автори: | , , , , , |
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| Формат: | Artigo |
| Мова: | Inglês |
| Опубліковано: |
MDPI AG
2026-03-01
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| Серія: | Biomolecules |
| Предмети: | |
| Онлайн доступ: | https://www.mdpi.com/2218-273X/16/3/399 |
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