Citations 1
Utilizing ClinGen gene‐disease validity and dosage sensitivity curations to inform variant classification
Thaxton, Courtney , Good, Molly, DiStefano, Marina T. , Luo, Xi , Andersen, Erica , Thorland, Erik C., Martin, Christa Lese , Rehm, Heidi L. , Riggs, Erin Rooney , Group, ClinGen Gene Curation Working, Group, ClinGen Dosage Sensitivity Working, Thorland, Erik, Rehm, Heidi L , Riggs, Erin R , Thaxton, Courtney , Berg, Jonathan S. , Group, ClinGen Gene Curation Working, Group, ClinGen Dosage Sensitivity Working
Human Mutation | October 25, 2021 | Volume: 43 | Issue: 8 | Pages: 1031-1040
