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Prescreening whole exome sequencing results from patients with retinal degeneration for variants in genes associated with retinal degeneration
BACKGROUND: Accurate clinical diagnosis and prognosis of retinal degeneration can be aided by the identification of the disease-causing genetic variant. It can confirm the clinical diagnosis as well as inform the clinician of the risk for potential involvement of other organs such as kidneys. It als...
Autores principales: | , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Dove Medical Press
2017
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5749571/ https://www.ncbi.nlm.nih.gov/pubmed/29343940 http://dx.doi.org/10.2147/OPTH.S147684 |