Associated Papers
Stargardt disease-associated missense and synonymous ABCA4 variants result in aberrant splicing.
Kaltak M et al.
Human Molecular Genetics, 2023
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 › S9_PS1_PM5.xlsx › Missense
Genotypic spectrum and phenotype correlations of ABCA4-associated disease in patients of south Asian descent.
Lee W et al.
European Journal of Human Genetics : Ejhg, 2017
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