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Cell-free DNA as a diagnostic analyte for molecular diagnosis of vascular malformations

PURPOSE: Vascular malformations (VM) are primarily caused by somatic activating pathogenic variants in oncogenes. Targeted pharmacotherapies are emerging but require molecular diagnosis. Since variants are currently only detected in malformation tissue, patients may be ineligible for clinical trials...

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Detalles Bibliográficos
Autores principales: Zenner, Kaitlyn, Jensen, Dana M., Cook, Tori T., Dmyterko, Victoria, Bly, Randall A., Ganti, Sheila, Mirzaa, Ghayda M., Dobyns, William B., Perkins, Jonathan A., Bennett, James T.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7796969/
https://www.ncbi.nlm.nih.gov/pubmed/32884133
http://dx.doi.org/10.1038/s41436-020-00943-8