Varaico: Literature-Extracted Genetic Variants

Gene:ABCA4
Variant:p.S1063delFs
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ABCA4

NM_000350.3:p.S1063delFs

Associated Papers

Inherited retinal diseases in Kentucky: diagnostic yield, gene variants, and novel mutations in a U.S. population.

Demas N et al.

Bmc Medical Genomics, 2025

40877827 (PubMed )
Supplement: 12920_2025_2186_MOESM3_ESM.pdf

Successful large gene augmentation of USH2A with non-viral episomal vectors.

Toms M et al.

Molecular Therapy : the Journal of the American Society of Gene Therapy, 2023

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