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- 2019
Using High-Resolution Variant Frequencies Empowers Clinical Genome Interpretation and Enables Investigation of Genetic ArchitectureDOI: 10.1016/j.ajhg.2018.11.012 Abstract: Curations and Penetrance Estimates of 15 Variants Flagged by Shah et al. and Two Additional Candidate Low-Penetrance Variants Identified in This Analysi
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