About
Contact & Profiles
A5070668235
Research Areas
- Retinal Diseases and Treatments
- Ophthalmology and Visual Impairment Studies
- Retinal Development and Disorders
Bartiméus
2022
Abstract Pathogenic variants in the OPN1LW/OPN1MW gene cluster are causal for a range of mild to severe visual impairments with color deficiencies. The widely utilized short-read next-generation sequencing (NGS) is inappropriate analysis and many patients pathogenic stay underdiagnosed. A diagnostic genetic assay was developed cluster, consisting copy number via multiplex ligation-dependent probe amplification sequence long-read circular consensus sequencing. Performance determined on 50...
10.1038/s41525-022-00334-9
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npj Genomic Medicine
2022-11-09
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