Protein modeling and in silico analysis to assess pathogenicity of

The retina-specific ABCA transporter, ABCA4, plays an essential role in translocating retinoids required by the visual cycle. We studied 13 clinically well-defined patients with We conducted a phenotype-genotype comparison of 13 genetically and phenotypically well-defined retinal disease patients. The in silico protein structure analyses we employed successfully detected the deleterious effect of missense variants found in this affected patient cohort. Our study provides American College of Medical Genetics and Genomics (ACMG)-defined supporting evidence of the pathogenicity of nine missense In this report, we describe a systematic approach to predicting the pathogenicity of

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