Varaico: Literature-Extracted Genetic Variants

Gene:ABCA4
Variant:p.K1164R
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ABCA4

NM_000350.3:p.K1164R

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_s012.xlsx › arrange

Functional Characterization of ABCA4 Missense Variants Aids Variant Interpretation and Phenotype Prediction in Patients With ABCA4-Retinal Dystrophies.

Aslaksen S et al.

Investigative Ophthalmology & Visual Science, 2024

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