Varaico: Literature-Extracted Genetic Variants

Gene:ABCA4
Variant:p.I73I
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ABCA4

NM_000350.3:p.I73I

Associated Papers

Rescue of the disease-associated phenotype in CRISPR-corrected hiPSCs as a therapeutic approach for inherited retinal dystrophies.

Siles L et al.

Molecular Therapy. Nucleic Acids, 2025

40083649 (PubMed )
Supplement: mmc1.pdf

Lack of association of mutations of the bestrophin gene with age-related macular degeneration in non-familial Japanese patients.

Akimoto A et al.

Graefe's Archive for Clinical and Experimental Ophthalmology = Albrecht Von Graefes Archiv Fur Klinische Und Experimentelle Ophthalmologie, 2001

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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."