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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...

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Detalles Bibliográficos
Autores principales: Vaseghi, Hajar, Akrami, Seyed Mohammad, Rashidi‐Nezhad, Ali
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2023
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