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https://doi.org/10.1136/jmedgenet-2013-101961
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Cite Journal: Journal of Medical Genetics |  Publication Date: Sep 18, 2013 |
 Citations: 19 |
BackgroundMosaic IDH1 mutations are described as the cause of metaphyseal chondromatosis with increased urinary excretion of D-2-hydroxyglutarate (MC-HGA), and mutations in IDH2 as the cause of D-2-hydroxyglutaric aciduria (D-2HGA) type...
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