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Data-driven phenotype discovery of FMR1 premutation carriers in a population-based sample.
Long-Term Treatment of Niemann-Pick Type C1 Disease With Intrathecal 2-Hydroxypropyl-?-Cyclodextrin.
Tuberculosis infections and tumor necrosis factor alpha antagonists.
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Data-driven phenotype discovery of FMR1 premutation carriers in a population-based sample.
Data-driven phenotype discovery of FMR1 premutation carriers in a population-based sample. Sci Adv. 2019 08; 5(8):eaaw7195.
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PubMed
subject areas
Databases, Genetic
Female
Fragile X Mental Retardation Protein
Fragile X Syndrome
Genetic Association Studies
Genetic Predisposition to Disease
Heterozygote
Humans
Male
Mutation
Phenotype
Population Surveillance
ROC Curve
Workflow
authors with profiles
Elizabeth Berry-Kravis