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| White matter disorders and cerebral calcification - narrow panel v0.11 | TACO1 |
Ellen McDonagh gene: TACO1 was added gene: TACO1 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: TACO1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TACO1 were set to 27319982 - mouse model with a missense variant causing loss of the translational activator of TACO1 have isolated complex IV deficiency; 25655951; 20727754 and 19503089 (same patients) Phenotypes for gene: TACO1 were set to Mitochondrial Leukoencephalopathy |
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