Varaico: Literature-Extracted Genetic Variants

Gene:ABCA4
Variant:p.L173_S174insFs
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ABCA4

NM_000350.3:p.L173_S174insFs

Associated Papers

Splicing defects and CRISPR-Cas9 correction in isogenic homozygous photoreceptor precursors harboring clustered deep-intronic ABCA4 variants.

De Angeli P et al.

Molecular Therapy. Nucleic Acids, 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."