Varaico: Literature-Extracted Genetic Variants

Gene:CEP290
Variant:p.K555I
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CEP290

NM_025114.4:p.K555I

Associated Papers

Non-syndromic Retinal Degeneration Caused by Pathogenic Variants in Joubert Syndrome Genes.

Sangermano R et al.

Advances in Experimental Medicine and Biology, 2023

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 Analysis of a European Cohort with Pericentral Retinitis Pigmentosa.

Karali M et al.

International Journal of Molecular Sciences, 2019

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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."