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P727: Rare disease diagnostics using RNA-Seq: How an investigational transcriptomic test helped conclude a 12-Year diagnostic odyssey

Authors :
Jessica Cooley Coleman
Adithya Kandhadai
Christa Clinemyer
Timothy Fee
Benjamin Hilton
Barbara DuPont
Michael Lyons
Roger Stevenson
Michael Friez
Source :
Genetics in Medicine Open, Vol 2, Iss , Pp 101631- (2024)
Publication Year :
2024
Publisher :
Elsevier, 2024.

Subjects

Subjects :
Genetics
QH426-470
Medicine

Details

Language :
English
ISSN :
29497744
Volume :
2
Issue :
101631-
Database :
Directory of Open Access Journals
Journal :
Genetics in Medicine Open
Publication Type :
Academic Journal
Accession number :
edsdoj.77bfe5d65a9148cdb989af5fb8ffc6a5
Document Type :
article
Full Text :
https://doi.org/10.1016/j.gimo.2024.101631