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Article

Prescreening whole exome sequencing results from patients with retinal degeneration for variants in genes associated with retinal degeneration

1 Dec 2017

Abstract excerpt

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 also aids in genetic counseling for affected individuals who want to have a child. Finally, knowledge of...

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PMID: 29343940
DOI: 10.2147/opth.s147684

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