S. E. Nieuwenhuis

Identification of a Duplication in the RP17 Locus in an Individual With Pathogenic CEP290 Variants: Implications for RP17 Variant Classification

The cone dystrophy phenotype of the proband can be attributed to the CEP290 variants, whereas the novel RP17 duplication can be classified as likely benign based on the integrated evidence, emphasize the importance of modeling and functional studies for accurately classifying RP17-SVs and preventing misinterpretation i...