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The challenges in the interpretation of genetic variants detected by genomics techniques in patients with congenital anomalies
BACKGROUND: Despite the efforts that have been made to standardize the interpretation of variants, in some cases, their pathogenicity remains vague and confusing, and sometimes their interpretation does not help clinicians to establish clinical correlation using genetic test results. This study aims...
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
John Wiley and Sons Inc.
2023
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10623530/ https://www.ncbi.nlm.nih.gov/pubmed/37823350 http://dx.doi.org/10.1002/jcla.24967 |