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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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Detecting Rare Genetic Disorders at Population Scale
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ESHG Membership (One-Time Regular Members)
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ESHG Membership (One-Time Trainee Members)
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Expanding Genomics Training through Inclusive Partnerships
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Returning Genomic Risk Results: Clinician Insights
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Uncovering Mosaic Tandem Repeats and Structural Variants with Long-Read Sequencing
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Genetic Diagnosis & Rare Disease Virtual Symposium
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Cancer predisposition variants in All of Us
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