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Keyphrases
Missense mutation
100%
Integration Site
100%
Non-syndromic Retinitis pigmentosa
100%
WD40 Domain
100%
Retinitis pigmentosa
33%
Missense Variants
33%
Ciliary
22%
Ciliated Cells
22%
Proband
11%
Retinal Diseases
11%
Compound Heterozygous mutation
11%
Retinal pigment Epithelium
11%
Exome Sequencing
11%
Genotype-phenotype Correlation
11%
Autosomal Dominant Retinitis pigmentosa
11%
Nonsyndromic
11%
Ciliary Protein
11%
Homology Modeling
11%
Mutant Protein
11%
Retinal Ciliopathy
11%
Intraflagellar Transport
11%
Domain Structure
11%
Redundant mutants
11%
Patient Fibroblasts
11%
Recombinant
11%
Functional Significance
11%
Structure Homology
11%
Protein Function
11%
3D Structure
11%
Cilia Length
11%
New Genotype
11%
Biochemistry, Genetics and Molecular Biology
Missense Mutation
100%
Retinitis pigmentosa
100%
WD40 Repeat
100%
Missense
50%
Exome Sequencing
16%
Proband
16%
Cilium
16%
Fibroblast
16%
Autosomal Recessive Inheritance
16%
Genotype Phenotype Correlation
16%
Protein Function
16%
Intraflagellar Transport
16%
Homology Modeling
16%
Mutant Protein
16%