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Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder

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Exome sequencing is now being incorporated into clinical care for pediatric and adult populations, but its integration into prenatal diagnosis has been more limited. One reason for this is the paucity of information about the clinical utility of exome sequencing in the prenatal setting.

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Nội dung Text: Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder

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