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Paper Details

Utilizing ClinGen gene-disease validity and dosage sensitivity curations to inform variant classification.
Hum Mutat
20
2022
genes, genomic regions, haploinsufficiency
Author NameAffiliation
Courtney ThaxtonUniversity of North Carolina at Chapel Hill
Marina T DiStefano
Xi LuoBaylor College of Medicine
Jonathan S BergUniversity of North Carolina at Chapel Hill
Christa Lese MartinAutism & Developmental Medicine Institute
Heidi L RehmBroad Center for Mendelian Genomics, Broad Institute of MIT and Harvard
Heidi L RehmBroad Center for Mendelian Genomics, Broad Institute of MIT and Harvard
Erin Rooney RiggsAutism & Developmental Medicine Institute
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