Comparing Gene Panels for Non-Retinal Indications: A Systematic Review.

Genes(2023)

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摘要
Access to genetic testing is increasing. The diagnostic yield of genetic testing is increasing. Each panel is different, so phenotyping or characterizing clinical characteristics that may help predict a specific genotype, as well as pre-test hypotheses regarding a genotype, should shape the choice of panels.
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关键词
anterior segment dysgenesis,congenital cataract,congenital glaucoma,hereditary optic neuropathy,inherited eye disease,panel testing,retinal dystrophy
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