Identification of novel pathogenic copy number variations in Charcot-Marie-Tooth disease. [electronic resource]
Producer: 20201009Description: 313-323 p. digitalISSN:- 1435-232X
- Adolescent
- Adult
- Charcot-Marie-Tooth Disease -- genetics
- Child
- Child, Preschool
- Comparative Genomic Hybridization
- Cytoskeletal Proteins -- genetics
- DNA Copy Number Variations -- genetics
- Exome -- genetics
- Female
- Genetic Predisposition to Disease -- genetics
- High-Throughput Nucleotide Sequencing
- Humans
- Male
- Microfilament Proteins -- genetics
- Middle Aged
- Mutation -- genetics
- Nerve Tissue Proteins -- genetics
- Phenotype
- Ubiquitin-Protein Ligases -- genetics
- Exome Sequencing
- Young Adult
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Publication Type: Journal Article
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