Associated Papers
A Novel Pathogenic Variant in the RDH5 Gene in a Patient with Fundus Albipunctatus and Severe Macular Atrophy.
You H et al.
Case Reports in Genetics, 2022
Identification of numerous novel disease-causing variants in patients with inherited retinal diseases, combining careful clinical-functional phenotyping with systematic, broad NGS panel-based genotyping.
Gupta PR et al.
Molecular Vision, 2022
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