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52,53,54 For example, Upadhyaya and colleagues identified 77 distinct somatic NF1 mutations (53 of which were not previously described) in a study of 109 cNFs from 46 NF1 patients, of which 25/109 (~23%) cNFs exhibited NF1 LOH

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Pathogenesis and prevention of hepatic steatosis

For instance, a study demonstrated that blocking MCU significantly reduced ROS production and mitochondrial swelling in iron-overloaded thalassemic mice, suggesting that MCU could be a therapeutic target for preventing mitochondrial dysfunction in IOC ( Genetics factors Polymorphisms and mutations in specific genes can participate in cardiac iron overload