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Genetics in Medicine Open
(Jan 2024)
P296: Leveraging electronic health records (EHR) to identify patients with rare disease: An atypical case of aromatic L-amino acid decarboxylase deficiency
Megan Shuey,
Erica Nelson,
Lucas Richter,
Theodore Morley,
Lisa Bastarache,
Douglas Ruderfer
Affiliations
Megan Shuey
Vanderbilt University Medical Center
Erica Nelson
Vanderbilt University Medical Center
Lucas Richter
Vanderbilt University Medical Center
Theodore Morley
Vanderbilt University Medical Center
Lisa Bastarache
Vanderbilt University Medical Center
Douglas Ruderfer
Vanderbilt University Medical Center
Journal volume & issue
Vol. 2
p. 101192
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