Associated Papers
Mutational scanning of CRX classifies clinical variants and reveals biochemical properties of the transcriptional effector domain.
Shepherdson JL et al.
Genome Research, 2024
Genotypic Profile and Clinical Characteristics of CRX-Associated Retinopathy in Koreans.
Kim DG et al.
Genes, 2023
Targeted next generation sequencing and family survey enable correct genetic diagnosis in CRX associated macular dystrophy - a case report.
Al-Khuzaei S et al.
Bmc Ophthalmology, 2021
Association of CRX genotypes and retinal phenotypes confounded by variable expressivity and electronegative electroretinogram.
Nishiguchi KM et al.
Clinical & Experimental Ophthalmology, 2020
Variability in Gene Expression is Associated with Incomplete Penetrance in Inherited Eye Disorders.
Green DJ et al.
Genes, 2020
32050448 (PubMed )
Supplement: genes-11-00179-s001.zip › Supplementary_File_3.xlsx › gnomAD_overlap_autosomal
Pathogenicity discrimination and genetic test reference for CRX variants based on genotype-phenotype analysis.
Yi Z et al.
Experimental Eye Research, 2019
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