Associated Papers
A clinical and molecular characterisation of CRB1-associated maculopathy.
Khan KN et al.
European Journal of Human Genetics : Ejhg, 2018
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
CRB1 mutations in inherited retinal dystrophies.
Bujakowska K et al.
Human Mutation, 2012
Development and application of a next-generation-sequencing (NGS) approach to detect known and novel gene defects underlying retinal diseases.
Audo I et al.
Orphanet Journal of Rare Diseases, 2012
Leber congenital amaurosis: first genotyped Hungarian patients and report of 2 novel mutations in the CRB1 and CEP290 genes.
Vámos R et al.
European Journal of Ophthalmology, 0
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