Copy Number Variant Discrepancy Resolution Using the ClinGen Dosage Sensitivity Map Results in Updated Clinical Interpretations in ClinVar.
Erin R. Riggs,Tristan Nelson, Andrew Merz,Todd Ackley,Brian Bunke,Christin D. Collins,Morag N. Collinson,Yao-Shan Fan,McKinsey L. Goodenberger,Denae M. Golden, Linda Haglund-Hazy,Danijela Krgovic,Allen N. Lamb,Zoe Lewis, Guang Li,Yajuan Liu,Jeanne Meck,Whitney Neufeld-Kaiser,Cassandra K. Runke,Jennifer N. Sanmann,Dimitri J. Stavropoulos,Emma Strong,Meng Su,Marwan K. Tayeh,Nadja Kokalj Vokac,Erik C. Thorland,Erica Andersen,Christa L. Martin Human Mutation（2018）
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ClinGen,ClinVar,CNV discrepancy,dosage sensitivity,variant interpretation
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