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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...

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Detalles Bibliográficos
Autores principales: Bryant, Laura, Lozynska, Olga, Maguire, Albert M, Aleman, Tomas S, Bennett, Jean
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Dove Medical Press 2017
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