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Genotype-phenotype correlation in patients with Usher syndrome and pathogenic variants in MYO7A: implications for future clinical trials.
Galbis-Martínez Lilián, Blanco-Kelly Fiona, García-García Gema, Ávila-Fernández Almudena, Jaijo Teresa, Fuster-García Carla et al.
Acta OphthalmolFeb 202111 citationsObservational Study
This study found no MYO7A genotype-phenotype correlation in Usher syndrome, suggesting variant type may not predict visual disease course, aiding future clinical trial design.