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P296: Leveraging electronic health records (EHR) to identify patients with rare disease: An atypical case of aromatic L-amino acid decarboxylase deficiency

Authors :
Megan Shuey
Erica Nelson
Lucas Richter
Theodore Morley
Lisa Bastarache
Douglas Ruderfer
Source :
Genetics in Medicine Open, Vol 2, Iss , Pp 101192- (2024)
Publication Year :
2024
Publisher :
Elsevier, 2024.

Subjects

Subjects :
Genetics
QH426-470
Medicine

Details

Language :
English
ISSN :
29497744
Volume :
2
Issue :
101192-
Database :
Directory of Open Access Journals
Journal :
Genetics in Medicine Open
Publication Type :
Academic Journal
Accession number :
edsdoj.6c6e7df8f290468dbd231ce68de89399
Document Type :
article
Full Text :
https://doi.org/10.1016/j.gimo.2024.101192