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doi: 10.1016/j.blre.2007.01.001 Summary Keywords acute intermittent porphyria, HMBS gene, genotype and phenotype relationship, hypergeometric test, variation ethnic distribution difference, PPARA gene Citation Fu Y, Jia J, Yue L, Yang R, Guo Y, Ni X and Shi T (2019) Systematically Analyzing the Pathogenic Variations for Acute Intermittent Porphyria