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Genetics in Medicine Open
(Jan 2023)
P251: XLH molecular diagnoses and the PHEX gene variant landscape: Sponsored hypophosphatemia gene panel testing findings from 2019 vs 2022
Nicole Miller,
Omid Japalaghi,
Eric Rush,
Kathryn Dahir,
Prameela Ramesan,
Heather McLaughlin
Affiliations
Nicole Miller
Ultragenyx Pharmaceutical Inc.
Omid Japalaghi
Ultragenyx Pharmaceutical Inc.
Eric Rush
Children’s Mercy, Kansas City, MO; Department of Pediatrics, University of Missouri – Kansas City School of Medicine
Kathryn Dahir
Vanderbilt University Medical Center
Prameela Ramesan
Ultragenyx Pharmaceutical Inc.
Heather McLaughlin
Invitae Corporation
Journal volume & issue
Vol. 1, no. 1
p. 100279
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