Associated Papers
Pathogenicity discrimination and genetic test reference for CRX variants based on genotype-phenotype analysis.
Yi Z et al.
Experimental Eye Research, 2019
The phenotypic variability of retinal dystrophies associated with mutations in CRX, with report of a novel macular dystrophy phenotype.
Hull S et al.
Investigative Ophthalmology & Visual Science, 2014
[Databases for mutations in human diseases].
Minoshima S et al.
Nihon Rinsho. Japanese Journal of Clinical Medicine, 2010
KMeyeDB: a graphical database of mutations in genes that cause eye diseases.
Kawamura T et al.
Human Mutation, 2010
Leber congenital amaurosis: comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosis.
Hanein S et al.
Human Mutation, 2004
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