Genetic & Genomic MedicinemedRxivPreprint
Pathogenicity Reassessment and Novel Variant Discovery in Inherited Retinal Disease through Population-Scale Genomics in the United Arab Emirates
Budour Alkaf, Wadha Mohammed Abdulrahman, Sahar Al Marzooqi…·Tiago R. Magalhães
The paper reassesses pathogenicity of variants in inherited retinal diseases using population-scale genomics in the UAE, identifying clinically relevant variants and highlighting discrepancies between clinical and population-based classifications.
4 citations