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Keyphrases
Natural History
100%
Genetic Analysis
100%
Examination Scores
100%
Charcot-Marie-Tooth Disease
100%
CMTX1
100%
GJB1
100%
Variants of Uncertain Significance
57%
Likely Pathogenic Variant
57%
Response Mean
42%
Regression Analysis
28%
Longitudinal Analysis
28%
Baseline Analysis
28%
Variant Interpretation
28%
Clinical Trials
14%
Clinical Data
14%
No Significant Difference
14%
Disease Progression
14%
Patient Selection
14%
Most Common Form
14%
Disease-associated
14%
Male Patients
14%
Disease Groups
14%
Progression Rate
14%
Large Cohort
14%
Longitudinal Change
14%
Demographic Data
14%
Severely Affected
14%
Pathogenicity
14%
Difference Analysis
14%
Intracellular Domain
14%
Common Variants
14%
Severe Phenotype
14%
Sensory Neuropathy
14%
Genetic Data
14%
Genotype-phenotype Correlation
14%
Missense Variants
14%
Mild Phenotype
14%
Motor Neuropathy
14%
X-linked Disorder
14%
International multicenter Study
14%
Genotype-phenotype Analysis
14%
American College of Medical Genetics
14%
ClinVar
14%
Benign Variants
14%
Mild Groups
14%
Medicine and Dentistry
Genetic Analysis
100%
DeJerine-Sottas Disease
100%
Diseases
60%
Clinical Trial
20%
Patient Selection
20%
Sensory Neuropathy
20%
Genotype Phenotype Correlation
20%
Pathogenicity
20%
Multifocal Motor Neuropathy
20%
X Chromosome Linked Disorder
20%
Biochemistry, Genetics and Molecular Biology
Genetics
100%
GJB1
100%
Clinical Trial
16%
Genotyping
16%
Missense
16%
Medical Genetics
16%
Genotype-Phenotype Correlation
16%
Neuroscience
Charcot-Marie-Tooth Disease
100%
Neuropathy
20%