Varaico: Literature-Extracted Genetic Variants

Gene:CEP290
Variant:p.K1004fs
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CEP290

NM_025114.4:p.K1004fs

Associated Papers

Spectrum of Disease Severity in Nonsyndromic Patients With Mutations in the CEP290 Gene: A Multicentric Longitudinal Study.

Testa F et al.

Investigative Ophthalmology & Visual Science, 2021

Clinical and Genetic Evaluation of a Cohort of Pediatric Patients with Severe Inherited Retinal Dystrophies.

Di Iorio V et al.

Genes, 2017

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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."