Associated Papers
Atypical retinitis pigmentosa associated with CERKL mutation.
Tanwar V et al.
Eye (london, England), 2025
Deciphering the Genetic Basis of Degenerative and Developmental Eye Disorders in 50 Pakistani Consanguineous Families Using Whole-Exome Sequencing.
Zafar A et al.
International Journal of Molecular Sciences, 2025
40141357 (PubMed )
Supplement: ijms-26-02715-s001.zip › Table_S2.pdf
Genetic and Clinical Findings in an Ethnically Diverse Cohort with Retinitis Pigmentosa Associated with Pathogenic Variants in CERKL.
Downes SM et al.
Genes, 2020
CERKL mutation causing retinitis pigmentosa(RP) in Indian population - a genotype and phenotype correlation study.
Sen P et al.
Ophthalmic Genetics, 2020
Applying next generation sequencing with microdroplet PCR to determine the disease-causing mutations in retinal dystrophies.
Wang X et al.
Bmc Ophthalmology, 2017
Genetic analysis of 10 pedigrees with inherited retinal degeneration by exome sequencing and phenotype-genotype association.
Biswas P et al.
Physiological Genomics, 2017
Select a paper to view details