Whole-exome sequencing and molecular dynamics confirm pathogenicity of a novel SLC6A6 mutation in Leber congenital amaurosis. - Natarajan, Srikrupa N.; Ansar, Samdani; Sripriya, Sarangapani; Parveen, Sen; Gupta, Ravi; Vetrivel, Umashankar; Sinnakarupan, Mathavan (Egyptian Journal of Medical Human Genetics, 2025)