Articles with "variants nr2e3" as a keyword



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Novel Pathogenic Sequence Variants in NR2E3 and Clinical Findings in Three Patients

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Published in 2020 at "Genes"

DOI: 10.3390/genes11111288

Abstract: A retrospective review of the clinical records of patients seen at the Oxford Eye Hospital identified as having NR2E3 mutations was performed. The data included symptoms, best-corrected visual acuity, multimodal retinal imaging, visual fields and… read more here.

Keywords: variants nr2e3; pathogenic sequence; novel pathogenic; sequence variants ... See more keywords