Associated Papers
Rescue of Aberrant Splicing Caused by a Novel Complex Deep-intronic ABCA4 Allele.
Maggi J et al.
Genes, 2024
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
Phenotype-Based Genetic Analysis Reveals Missing Heritability of ABCA4-Related Retinopathy: Deep Intronic Variants and Copy Number Variations.
Tian L et al.
Investigative Ophthalmology & Visual Science, 2022
Clinical spectrum, genetic complexity and therapeutic approaches for retinal disease caused by ABCA4 mutations.
Cremers FPM et al.
Progress in Retinal and Eye Research, 2020
Select a paper to view details