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Bayesian models for syndrome- and gene-specific probabilities of novel variant pathogenicity
Download from dx.doi.orgTitin: a phenotype-genotype descriptive comparison of dilated cardiomyopathy
Download from dx.doi.orgNECTAR: a database of codon-centric missense variant annotations
Download from doi.orgParalogous annotation of disease-causing variants in long QT syndrome genes
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