MOESM4 of Targeted capture enrichment followed by NGS: development and validation of a single comprehensive NIPT for chromosomal aneuploidies, microdeletion syndromes and monogenic diseases
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Additional file 4: Table S3. List of 50 monogenic diseases screened by comprehensive NIPT. Targeted mutations covered are outlined along with detection frequencies in corresponding populations
创建时间：
2019-11-22
