Clinical exome sequencing: results from 2819 samples reflecting 1000 families. [electronic resource]
Producer: 20170705Description: 176-182 p. digitalISSN:- 1476-5438
- Adolescent
- Adult
- Child
- Child, Preschool
- Exome
- Female
- Flavoproteins -- genetics
- Genetic Testing -- methods
- Genotyping Techniques -- methods
- Humans
- Infant
- Infant, Newborn
- Intracellular Signaling Peptides and Proteins -- genetics
- Male
- Middle Aged
- Mitochondrial Proteins -- genetics
- NAV1.3 Voltage-Gated Sodium Channel -- genetics
- Nuclear Family
- Phenotype
- Potassium Channels -- genetics
- Protein Tyrosine Phosphatases, Non-Receptor -- genetics
- Protoporphyrinogen Oxidase -- genetics
- Sequence Analysis, DNA -- methods
- Sodium Channels -- genetics
- Voltage-Gated Sodium Channel beta-1 Subunit -- genetics
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Publication Type: Evaluation Study; Journal Article
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