Showing 1–12 of 28 results
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Aberrant N-glycosylation may be a therapeutic target in carriers of a common and highly pleiotropic variant in the manganese transporter ZIP8
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A Transchromosomic Rat Model of Down Syndrome
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Behind-the-Scenes: Publications Workshop
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Canonical splice site variants: more than meets the eye
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Common variant in Greenlanders impacts heart health
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CRISPR activation to study splice-altering variants
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Developmental Genomics of Congenital Limb Malformations
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Enhanced genetic diagnosis through RNA-seq analysis of transdifferentiated cells
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Evaluating and improving health equity and fairness of polygenic scores
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Exome CNV detection and classification in rare diseases
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Exploring Patterns of Mosaicism in One Million People
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Genetic Susceptibility to COVID-19 Vaccine Side Effects
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