Keyphrases
Cystic Fibrosis
92%
Cystic Fibrosis Transmembrane Conductance Regulator
63%
Splice Variant
19%
Human Nasal Epithelial Cells
17%
RNA Splicing
16%
Ivacaftor
16%
CFTR Variants
15%
Exonic
13%
Functional Consequences
13%
Sweat Gland
13%
Lung
12%
Disease Liability
11%
Sweat Chloride
10%
CFTR Function
10%
Missense Variants
10%
Disease Variants
10%
Airway Epithelial Cells
10%
Nonsense Variant
10%
Precision Medicine
9%
CFTR Protein
9%
Protein Function
9%
Precision Treatment
8%
Accurate Assessment
8%
Clinical Features
8%
Airway Disease
8%
PDZ-binding Motif
8%
Human Genome
8%
Deep Learning Methods
8%
NHERF1
8%
Computational Identification
8%
Carbonic Anhydrase XII
8%
Functional Assay
8%
Premature Termination Codon
8%
CA XII
8%
Cryptic Splice Site
8%
Heterogeneous Treatment Effects
8%
Variable Expressivity
8%
Protein Stability
8%
MRNA Stability
8%
Exonic Variants
8%
Gene Variants
8%
Pulmonary Airways
8%
Therapeutic Strategies
8%
Complementary Method
8%
CFTR Gene
8%
Gene Targeting
8%
Frameshift Variant
8%
Orangutan
8%
W1282X
8%
Intronic Variant
8%
Biochemistry, Genetics and Molecular Biology
Cystic Fibrosis
100%
Cystic Fibrosis Transmembrane Conductance Regulator
76%
Messenger RNA
26%
RNA
22%
Locus Control Region
20%
RNA Splicing
18%
Minigene
18%
Nonsense-Mediated Decay
15%
Allele
14%
Codon
14%
RNA Sequencing
13%
Wild Type
13%
Missense
12%
Genotyping
12%
Intron
12%
Protein Function
10%
Genetics
10%
Adenine
10%
Orangutan
8%
Proteome
8%
Computer Model
8%
Homozygote
8%
Ion Transport
8%
C-Terminus
8%
Protein Stability
8%
Carbonic Anhydrase
8%
Proteomics
8%
Transcriptomics
8%
N-Terminus
8%
Ivacaftor
8%
Serotype
8%
Adeno Associated Virus
8%
Gene Control
8%
Exon
7%
RNA Sequence
6%
Primary Cell
6%
Proband
6%
Proteome Analysis
5%
Secretion (Process)
5%
Open Reading Frame
5%
Transcriptome
5%
Human Genome
5%
Pedigree
5%
Medicine and Dentistry
Cystic Fibrosis Transmembrane Conductance Regulator
57%
Cystic Fibrosis
52%
Epithelial Cell
36%
Base
16%
Ivacaftor
16%
Sweat Gland
16%
Disease
14%
Tezacaftor
13%
Allele
13%
Cell Line
13%
Airway Cell
12%
Regulator Gene
11%
Adenine
10%
Nonsense Mediated mRNA Decay
9%
Personalized Medicine
9%
RNA Splicing
8%
Clinical Feature
8%
Amino Terminal Sequence
8%
Epithelial Cell Line
8%
Cohort Effect
8%
Stable Expression
8%
Melanocortin 3 Receptor
8%
Adeno-Associated Virus
8%
Real-World Data
8%
Bile Duct
8%
Pancreatic Duct
8%
Gene Control
8%
Intron
7%
Serotype
7%
In Vitro
6%
Codon
5%
Exon
5%
Complementary DNA
5%
Pathogenicity
5%
