Exome-based mapping and variant prioritization for inherited Mendelian disorders. [electronic resource]
Producer: 20140501Description: 373-84 p. digitalISSN:- 1537-6605
- Chromosome Mapping -- methods
- Cohort Studies
- Computational Biology -- methods
- Databases, Genetic
- Exome
- Female
- Gene Expression Profiling
- Gene Expression Regulation
- Genes, Dominant
- Genetic Linkage
- Genetic Markers
- Genetic Variation
- Genotype
- Heterozygote
- Humans
- Male
- Mutation
- Pedigree
- Phenotype
- Retina -- metabolism
- Retinitis Pigmentosa -- genetics
- Software
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Publication Type: Journal Article; Research Support, N.I.H., Extramural
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