Advancing diagnosis and management of liver disease in adults through exome sequencing

BACKGROUND: Whole-exome sequencing (WES) is an effective tool for diagnosis in patients who remain undiagnosed despite a comprehensive clinical work-up. While WES is being used increasingly in pediatrics and oncology, it remains underutilized in non-oncological adult medicine, including in patients...

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Detalles Bibliográficos
Autores principales: Zheng, Melanie, Hakim, Aaron, Konkwo, Chigoziri, Deaton, Aimee M., Ward, Lucas D., Silveira, Marina G., Assis, David N., Liapakis, AnnMarie, Jaffe, Ariel, Jiang, Z. Gordon, Curry, Michael P., Lai, Michelle, Cho, Michael H., Dykas, Daniel, Bale, Allen, Mistry, Pramod K., Vilarinho, Silvia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2023
Materias:
Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10433007/
https://www.ncbi.nlm.nih.gov/pubmed/37566928
http://dx.doi.org/10.1016/j.ebiom.2023.104747

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