E. Misaghi

Genotype-Phenotype Correlations Reveal Positive Inheritance and Phenotype Associations for PROM1-Associated Inherited Retinal Degenerations

Genetic variants in PROM1 are associated with inherited blindness, but clinical phenotypes vary widely with currently no consensus on disease expectations or predicted patient outcomes. To address this issue, we performed chi-square correlation analysis on 190 published pathogenic and likely pathogenic variants from Cl...