Associated Papers
Analysis of Retinol Binding Protein 4 and ABCA4 Gene Variation in Non-Neovascular Age-Related Macular Degeneration.
Chou HD et al.
Diagnostics (basel, Switzerland), 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 › S7_BP7.xlsx › S7_Splice_prediction_synonymous
The Scope of Pathogenic ABCA4 Mutations Targetable by CRISPR DNA Base Editing Systems-A Systematic Review.
Piotter E et al.
Frontiers in Genetics, 2021
35154257 (PubMed )
Supplement: DataSheet1.xlsx › 5._Gnomad-all_variants
Molecular analysis of the ABCA4 gene in Turkish patients with Stargardt disease and retinitis pigmentosa.
Ozgül RK et al.
Human Mutation, 2004
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