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
A Rare Form of Retinal Dystrophy Caused by Hypomorphic Nonsense Mutations in CEP290.
Roosing S et al.
Genes, 2017
iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.
Wang M et al.
Scientific Reports, 2016
27527004 (PubMed )
Supplement: srep31321-s4.xls › SwissvarFilteredMix
Genetic screening of LCA in Belgium: predominance of CEP290 and identification of potential modifier alleles in AHI1 of CEP290-related phenotypes.
Coppieters F et al.
Human Mutation, 2010
CEP290, a gene with many faces: mutation overview and presentation of CEP290base.
Coppieters F et al.
Human Mutation, 2010
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