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Cardiomyopathy_Paediatric v0.0 | IDH2 |
Zornitza Stark gene: IDH2 was added gene: IDH2 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,Expert Review Green Mode of inheritance for gene: IDH2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: IDH2 were set to 24049096; 20847235 Phenotypes for gene: IDH2 were set to D-2-hydroxyglutaric aciduria 2, 613657; Mitochondrial isocitrate dehydrogenase deficiency (Organic acidurias); D-2-hydroxyglutaric aciduria 2 |