Varaico: Literature-Extracted Genetic Variants

Gene:ABCA4
Variant:p.N415T
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ABCA4

NM_000350.3:p.N415T

Associated Papers

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

Clinical features and molecular genetics of patients with ABCA4-retinal dystrophies.

Holtan JP et al.

Acta Ophthalmologica, 2021

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