Varaico: Literature-Extracted Genetic Variants

Gene:ABCA4
Variant:p.I1114del1
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ABCA4

NM_000350.3:p.I1114del1

Associated Papers

Functional characterization of ABCA4 genetic variants related to Stargardt disease.

Kim BM et al.

Scientific Reports, 2022

Genetic Mutation Profiles in Korean Patients with Inherited Retinal Diseases.

Kim MS et al.

Journal of Korean Medical Science, 2019

Genotypic profile and phenotype correlations of ABCA4-associated retinopathy in Koreans.

Joo K et al.

Molecular Vision, 2019

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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."