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Genetics in Medicine Open
(Jan 2024)
P155: The ClinGen framework for naming monogenic diseases*
Courtney Thaxton,
Leslie Biesecker,
Marina DiStefano,
Melissa Haendel,
Emma Owens,
Ada Hamosh,
Sharon Plon,
Heidi Rehm,
Jonathan Berg
Affiliations
Courtney Thaxton
University of North Carolina at Chapel Hill
Leslie Biesecker
National Human Genome Research Institute
Marina DiStefano
Broad Institute
Melissa Haendel
University of Colorado Anschutz Medical Campus
Emma Owens
University of North Carolina at Chapel Hill
Ada Hamosh
Johns Hopkins University
Sharon Plon
Baylor College of Medicine
Heidi Rehm
Broad Institute
Jonathan Berg
University of North Carolina at Chapel Hill
Journal volume & issue
Vol. 2
p. 101052
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