Diagnostic whole genome sequencing and split-read mapping for nucleotide resolution breakpoint identification in CNTNAP2 deficiency syndrome. [electronic resource]
Producer: 20150604Description: 2649-55 p. digitalISSN:- 1552-4833
- Adolescent
- DNA Copy Number Variations -- genetics
- Exons -- genetics
- Female
- Humans
- Male
- Membrane Proteins -- deficiency
- Molecular Diagnostic Techniques -- methods
- Mutation -- genetics
- Nerve Tissue Proteins -- deficiency
- Nucleotides -- genetics
- Pedigree
- Sequence Analysis, DNA -- methods
- Sequence Deletion -- genetics
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Publication Type: Case Reports; Journal Article
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