Associated Papers
Diagnostic Challenges in ABCA4-Associated Retinal Degeneration: One Gene, Many Phenotypes.
Tan TE et al.
Diagnostics (basel, Switzerland), 2023
De Novo Mutations Contributes Approximately 7% of Pathogenicity in Inherited Eye Diseases.
Li W et al.
Investigative Ophthalmology & Visual Science, 2023
36729443 (PubMed )
Supplement: iovs-64-2-5_s003.xlsx › All_Identified_Causative_Mutant
Association of Sex With Frequent and Mild ABCA4 Alleles in Stargardt Disease.
Runhart EH et al.
Jama Ophthalmology, 2020
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