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ABCA4
NM_000350.3:p.V2114_S2129delFs
Associated Papers
Identification and functional characterization of ABCA4 gene variants in three patients with Stargardt disease or retinitis pigmentosa.
Luo Q et al.
Frontiers in Genetics, 2025
Stargardt disease-associated missense and synonymous ABCA4 variants result in aberrant splicing.
Kaltak M et al.
Human Molecular Genetics, 2023
Benchmarking deep learning splice prediction tools using functional splice assays.
Riepe TV et al.
Human Mutation, 2021
33942434 (PubMed )
Supplement: HUMU-42-799-s001.xlsx › ABCA4_NCSS
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
Identification of splice defects due to noncanonical splice site or deep-intronic variants in ABCA4.
Fadaie Z et al.
Human Mutation, 2019
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