The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine

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Gonsalves SG, Ng D, Johnston JJ, Teer JK, NISC Comparative Sequencing Program, Stenson PD, Cooper DN, Mullikin JC, Biesecker LG (2013) Using exome data for opportunistic screening of malignant hyperthermia susceptibility. Anesthesiology 6(4):337–346

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