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Phenotypic signatures in clinical data enable systematic identification of patients for genetic testing.
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Phenotypic signatures in clinical data enable systematic identification of patients for genetic testing.
Phenotypic signatures in clinical data enable systematic identification of patients for genetic testing. Nat Med. 2021 06; 27(6):1097-1104.
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PubMed
subject areas
Adolescent
Adult
Child
Child, Preschool
DNA Copy Number Variations
Electronic Health Records
Female
Genetic Diseases, Inborn
Genetic Testing
Humans
Infant
Male
Microarray Analysis
Phenotype
Rare Diseases
authors with profiles
Nancy Jean Cox