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Novel Pathogenic Sequence Variants in NR2E3 and Clinical Findings in Three Patients
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 electrophysiology testing. Three participants were id...
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| Pubblicato in: | Genes (Basel) |
|---|---|
| Autori principali: | , , , , , , |
| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
MDPI
2020
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| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7716234/ https://ncbi.nlm.nih.gov/pubmed/33138239 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/genes11111288 |
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