Associated Papers
Minigene Splice Assays Allow Pathogenicity Reclassification of RPE65 Variants of Uncertain Significance.
Panneman DM et al.
Genes, 2025
Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes.
Hitti-Malin RJ et al.
Biomolecules, 2024
38540785 (PubMed )
Supplement: biomolecules-14-00367-s001.zip › Supplementary_Table_S3-Disease-causing_variants_identified_in_the_solved_probands.xlsx › Variants
Structural and Pathogenic Impacts of ABCA4 Variants in Retinal Degenerations-An In-Silico Study.
Cevik S et al.
International Journal of Molecular Sciences, 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 › S1_ACMG_Categorisation.xlsx › Overview_S1
Progressive Choriocapillaris Impairment in ABCA4 Maculopathy Is Secondary to Retinal Pigment Epithelium Atrophy.
Jauregui R et al.
Investigative Ophthalmology & Visual Science, 2020
32298433 (PubMed )
Supplement: iovs-61-4-13_s001.pdf
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