Meta-analysis of genotype-phenotype associations in Bardet-Biedl syndrome uncovers differences among causative genes. [electronic resource]
Producer: 20200309Description: 2068-2087 p. digitalISSN:- 1098-1004
- ADP-Ribosylation Factors -- genetics
- Bardet-Biedl Syndrome -- diagnosis
- Cognitive Dysfunction -- genetics
- Congenital Abnormalities -- genetics
- Genetic Association Studies -- methods
- Genetic Predisposition to Disease
- Genotype
- Humans
- Kidney -- abnormalities
- Kidney Diseases -- congenital
- Mutation
- Penetrance
- Phenotype
- Proteins -- genetics
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Publication Type: Journal Article; Meta-Analysis; Research Support, Non-U.S. Gov't
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