Associated Papers
Compendium of Clinical Variant Classification for 2,246 Unique ABCA4 Variants to Clarify Variant Pathogenicity in Stargardt Disease Using a Modified ACMG/AMP Framework.
Cornelis SS et al.
Human Mutation, 2023
40225145 (PubMed )
Supplement: 6815504.f1.zip › S1_ACMG_Categorisation.xlsx › Overview_S1
A novel statistical method for interpreting the pathogenicity of rare variants.
Wang J et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
32884132 (PubMed )
Supplement: NIHMS1630822-supplement-Supplementary_Tables.xlsx › S6_ABCA4_variants
Association of Sex With Frequent and Mild ABCA4 Alleles in Stargardt Disease.
Runhart EH et al.
Jama Ophthalmology, 2020
Simultaneous expression of two pathogenic genes in four Chinese patients affected with inherited retinal dystrophy.
Liu XZ et al.
International Journal of Ophthalmology, 2020
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