18:根据ClinGen剂量敏感性管理,在学术参考实验室重新评估重叠新剂量敏感基因的基因组CNVs

Denise I. Quigley, Daniel P. Reich, Coumarane Mani, Zoe K. Lewis
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18: Re-evaluation of genomic CNVs overlapping new dosage sensitive genes at an academic reference laboratory in accordance with ClinGen dosage sensitivity curation
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