Associated Papers
Spectrum of Genetic Variants in the Most Common Genes Causing Inherited Retinal Disease in a Large Molecularly Characterized United Kingdom Cohort.
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Compendium of Clinical Variant Classification for 2,246 Unique ABCA4 Variants to Clarify Variant Pathogenicity in Stargardt Disease Using a Modified ACMG/AMP Framework.
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Human Mutation, 2023
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Phenotyping of ABCA4 Retinopathy by Machine Learning Analysis of Full-Field Electroretinography.
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