Article
Genomics, mutations and the Internet: the naming and use of parts.
Journal of inherited metabolic disease - 1 Jun 1999
Scriver C R, Nowacki P M
Abstract excerpt
Mutations are the source of genetic variation and diversity; by their effect, some are neutral, others are pathogenic. In contemporary genetics, mutations appear at the interface between genomics (structural and functional) and genetics (heredity), where they serve gene discovery and mapping (genomics) and generate challenges to modify their phenotypic effects (medical genetics). Assuming the human genome...
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