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Keyphrases
ABCA4
100%
ABCA4 Gene
11%
ABCA4 Protein
11%
Age at Diagnosis
11%
Cause of Disease
11%
Cell Signaling Pathways
11%
Cone-rod Dystrophy
11%
Electroretinography
22%
Exon
44%
Exon Skipping
100%
Fibroblasts
11%
Fluorescein Angiography
11%
Founder Haplotype
22%
Functional Impact
11%
Fundus
11%
Fundus Autofluorescence
11%
Haplotype Analysis
11%
HEK293 Cells
11%
Heterozygote
11%
Homozygote
11%
In Vitro Assay
11%
In Vitro Study
11%
Induced Pluripotent Stem Cells (iPSCs)
11%
Legally Blind
11%
Low Acuity
11%
Minigene
22%
MRNA Analysis
100%
Natural History
11%
Ophthalmological
11%
Patient-derived
11%
Photoreceptor
100%
Prediction Tool
11%
Proband
11%
Progenitor Cells
33%
Protein Truncation
11%
Quantitative PCR
11%
Rare Sequence Variants
22%
Rare Variants
11%
RNA Splicing
11%
Sequence Analysis
11%
Severe Phenotype
11%
Skipping
11%
Splicing Defect
22%
Stargardt Disease
100%
STGD1
44%
Visual Acuity
11%
Visual Field
11%
Young Age
11%
Biochemistry, Genetics and Molecular Biology
ABCA4
100%
Autofluorescence
9%
Electroretinography
18%
Exon
36%
Exon Skipping
100%
Fibroblast
9%
Fluorescein
9%
Haplotype
36%
Homozygote
9%
In Vitro Study
9%
Induced Pluripotent Stem Cell
9%
Messenger RNA
100%
Minigene
18%
Proband
9%
Progenitor Cell
27%
Protein Sequencing
9%
Reverse Transcription Polymerase Chain Reaction
9%
RNA
9%
RNA Splicing
9%
Visual Acuity
18%
Visual Field
9%