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Whole exome sequencing of known eye genes reveals genetic causes for high myopia

14 May 2022

Abstract excerpt

High myopia [refractive error ≤ -6 diopters (D)] is a heterogeneous condition, and without clear accompanying features, it can be difficult to pinpoint a genetic cause. This observational study aimed to evaluate the utility of whole exome sequencing (WES) using an eye disorder gene panel in European patients with high myopia. Patients with high myopia were recruited by ophthalmologists and clinical geneticists....

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PMID: 35567543
DOI: 10.1093/hmg/ddac113

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