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Paper Details

A test of automated use of electronic health records to aid in diagnosis of genetic disease.
Genet Med
0
2023
CF, CFTR, PheRS, SERPINA1, alpha-1-antitrypsin, alpha-1-antitrypsin deficiency, cystic fibrosis, genetic disease, participants, patients, rare diseases
Author NameAffiliation
Lisa BastaracheVanderbilt University Medical Center
Lisa BastaracheVanderbilt University Medical Center
Janey WangVanderbilt University Medical Center
Joshua C DennyNational Human Genome Research Institute, National Institutes of Health
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Release 1.2