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2. PATHOGENIC DNA VARIATION WITHIN ACMG SECONDARY FINDINGS GENES IN 18,000 HEALTHY INDIVIDUALS USING CLINICAL EXOME SEQUENCING FOR CARRIER SCREENING

P. Mir Pardo,J. Jiménez-Almazán,R. Alonso, J. Panadero, R. Hernández-De-Diego, C. Abellán,C. Simón,J. Martín

Reproductive BioMedicine Online(2019)

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关键词
Expanded carrier screening,next generation sequencing,secondary findings,clinically actionable genes,assisted reproduction
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