title: Why mutation analysis does not always predict clinical consequences: explanations in the era of genomics.
authors.affiliation: Department of Human Genetics, McGill University, Montréal, Québec, Canada. charles.scriver@mcgill.ca
authors.forename: Charles R
authors.initials: CR
authors.lastname: Scriver
mesh_terms: D004252:DNA Mutational Analysis; D019143:Evolution, Molecular; D015870:Gene Expression / Q000502:physiology*; D005820:Genetic Testing; D006706:Homeostasis; D006801:Humans; D009154:Mutation / Q000502:physiology; D010641:Phenotype; D010661:Phenylketonurias / Q000235:genetics