Assessing pathogenicity for novel mutation/sequence variants: the value of healthy older individuals. [electronic resource]
Producer: 20130507Description: 281-4 p. digitalISSN:- 1559-1174
- Adult
- Asymptomatic Diseases
- Biological Specimen Banks
- Biopsy
- Causality
- Child
- Child Behavior Disorders -- genetics
- Chromosomes, Human, X -- genetics
- Cognition Disorders -- genetics
- Coloboma -- genetics
- Comparative Genomic Hybridization
- DNA -- genetics
- Dystrophin -- genetics
- Exons -- genetics
- Facies
- Female
- Genetic Variation -- genetics
- Hearing Loss, Bilateral -- genetics
- Hearing Loss, Sensorineural -- genetics
- Humans
- Incidental Findings
- Male
- Middle Aged
- Muscle, Skeletal -- pathology
- Pedigree
- Sequence Deletion
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Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
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