Varaico: Literature-Extracted Genetic Variants

Gene:CEP290
Variant:p.P1450_Q1452delFs
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CEP290

NM_025114.4:p.P1450_Q1452delFs

Associated Papers

Eyes shut homolog (EYS): Connecting molecule to disease.

Marques JP et al.

Progress in Retinal and Eye Research, 2025

Increasing the yield in targeted next-generation sequencing by implicating CNV analysis, non-coding exons and the overall variant load: the example of retinal dystrophies.

Eisenberger T et al.

Plos One, 2013

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