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A systematic approach to implementing monogenic genomic medicine: Genotype-driven diagnosis of genetic diseases

Soden SE, Saunders CJ, Dinwiddie DL, Miller NA, Atherton AM, AbuAlnadi N, Leeder JS, Smith LD, Kingsmore SF. A systematic approach to implementing monogenic genomic medicine: Genotype-driven diagnosis of genetic diseases. J Genome Exome. 2012; 1:15-24.


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