Varaico: Literature-Extracted Genetic Variants

Gene:ABCA4
Variant:p.Q1513_R1514Splc
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ABCA4

NM_000350.3:p.Q1513_R1514Splc

Associated Papers

Contribution of genetic test results to patient management in ophthalmology: results from a Turkish Stargardt disease cohort.

Yaylacioğlu Tuncay F et al.

Turkish Journal of Medical Sciences, 2025

Association of Sex With Frequent and Mild ABCA4 Alleles in Stargardt Disease.

Runhart EH et al.

Jama Ophthalmology, 2020

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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."