Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome. [electronic resource]
Producer: 20170509Description: 318-36 p. digitalISSN:- 1537-6605
- Adolescent
- Adult
- Alleles
- Animals
- Bardet-Biedl Syndrome -- genetics
- Child
- Child, Preschool
- Chromosome Breakpoints
- Cytoskeletal Proteins -- genetics
- DNA Copy Number Variations -- genetics
- Exons -- genetics
- Female
- Gastrulation -- genetics
- Genes, Recessive
- Humans
- Infant
- Male
- Mutation
- Pedigree
- Young Adult
- Zebrafish -- embryology
- Zebrafish Proteins -- genetics
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Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
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