Associated Papers
Protein modeling and in silico analysis to assess pathogenicity of ABCA4 variants in patients with inherited retinal disease.
Cevik S et al.
Molecular Vision, 2023
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
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
Phenotype and Progression of Retinal Degeneration Associated With Nullizigosity of ABCA4.
Fakin A et al.
Investigative Ophthalmology & Visual Science, 2016
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