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Paper Details

Phenotypic presentation of Mendelian disease across the diagnostic trajectory in electronic health records.
Genet Med
2
2023
Mendelian disease, Mendelian diseases, genetic disease, hereditary connective tissue disorders, patients
Author NameAffiliation
Josh F PetersonVanderbilt University Medical Center, TN Vanderbilt University Medical Center
Lisa BastaracheVanderbilt University Medical Center
Lisa BastaracheVanderbilt University Medical Center
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Datasets

Release 1.2