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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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Figshare2019-12-06 更新2026-04-08 收录
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https://springernature.figshare.com/articles/MOESM4_of_Targeted_capture_enrichment_followed_by_NGS_development_and_validation_of_a_single_comprehensive_NIPT_for_chromosomal_aneuploidies_microdeletion_syndromes_and_monogenic_diseases/10730858/1
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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
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2019-11-22
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