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Fundoscopy-directed genetic testing to re-evaluate negative whole exome sequencing results
BACKGROUND: Whole exome sequencing (WES) allows for an unbiased search of the genetic cause of a disease. Employing it as a first-tier genetic testing can be favored due to the associated lower incremental cost per diagnosis compared to when using it later in the diagnostic pathway. However, there a...
Autores principales: | Cho, Ahra, Lima de Carvalho, Jose Ronaldo, Tanaka, Akemi J., Jauregui, Ruben, Levi, Sarah R., Bassuk, Alexander G., Mahajan, Vinit B., Tsang, Stephen H. |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6993391/ https://www.ncbi.nlm.nih.gov/pubmed/32000842 http://dx.doi.org/10.1186/s13023-020-1312-1 |
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