Spectrum-frequency and genotype–phenotype analysis of rhodopsin variants
Hualei Luo, Xueshan Xiao, Shiqiang Li, Wenmin Sun, Yi Zhen, Panfeng Wang, Qingjiong Zhang
Topics & Concepts
Missense mutationGeneticsBiologyRetinitis pigmentosaPhenotypeProbandGenotypeExome sequencingNonsense mutationRhodopsinNonsenseExomeGenotype-phenotype distinctionGeneMutationRetinalBiochemistryRetinal Development and DisordersPhotoreceptor and optogenetics researchRetinal Diseases and Treatments