Varaico: Literature-Extracted Genetic Variants

Gene:EYS
Variant:p.K1578delFs
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EYS

NM_001142800.2:p.K1578delFs

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

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."