Autor: Goel, H.
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Diagnostic inversion in prenatal genomics: counselling, governance and the expanded role of clinical genetics
Graham et al make an important contribution by demonstrating that inherited variants in autosomal dominant (AD) disease genes account for a substantial and likely under-recognised proportion of prenatal exome sequencing (pES) diagnoses in fetuses with …
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Diagnostic inversion in prenatal genomics: counselling, governance and the expanded role of clinical genetics
Graham et al make an important contribution by demonstrating that inherited variants in autosomal dominant (AD) disease genes account for a substantial and likely under-recognised proportion of prenatal exome sequencing (pES) diagnoses in fetuses with …