Varaico: Literature-Extracted Genetic Variants

Gene:ABCA4
Variant:p.G1110fs
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ABCA4

NM_000350.3:p.G1110fs

Associated Papers

ABCA4 Deep Intronic Variants Contributed to Nearly Half of Unsolved Stargardt Cases With a Milder Phenotype.

Wang Y et al.

Investigative Ophthalmology & Visual Science, 2025

39883546 (PubMed )
Supplement: iovs-66-1-65_s014.xlsx › Sheet1

Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes.

Hitti-Malin RJ et al.

Biomolecules, 2024

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