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J Biol Chem 272, 2593525940 (1997)

doi: 10.3389/fendo.2020.00316 73 GonzalezLPavezMWilsonCBarrientosGHetzCQuestAFGet al

For example, there are cases that patients family members with the same mutation are asymptomatic ( Materials and Methods Analysis of the Relationship Between Phenotypes and Genotypes We collected the clinical symptoms and corresponding mutation information of 117 patients from related resources and literature ( Table S1 )