Associated Papers
Stargardt disease-associated in-frame ABCA4 exon 17 skipping results in significant ABCA4 function.
Kaltak M et al.
Journal of Translational Medicine, 2023
37587475 (PubMed )
Supplement: 12967_2023_4406_MOESM3_ESM.xlsx › Table_S4
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 › S2_PVS1.xlsx › Canonical_Splice_Sites
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
Alternative splicing and retinal degeneration.
Liu MM et al.
Clinical Genetics, 2013
Analysis of the ABCA4 gene by next-generation sequencing.
Zernant J et al.
Investigative Ophthalmology & Visual Science, 2011
Deducing the pathogenic contribution of recessive ABCA4 alleles in an outbred population.
Schindler EI et al.
Human Molecular Genetics, 2010
20647261 (PubMed )
Supplement: supp_ddq284_ddq284supp_Table.xls › Supplemental_Table_1
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