Varaico: Literature-Extracted Genetic Variants

Gene:CEP290
Variant:p.L1518_I1519del2
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CEP290

NM_025114.4:p.L1518_I1519del2

Associated Papers

IQCB1 (NPHP5)-Retinopathy: Clinical and Genetic Characterization and Natural History.

Sen S et al.

American Journal of Ophthalmology, 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."