Associated Papers
The phenotype associated with variants in TANGO2 may be explained by a dual role of the protein in ER-to-Golgi transport and at the mitochondria.
Milev MP et al.
Journal of Inherited Metabolic Disease, 2021
TANGO2 deficiency as a cause of neurodevelopmental delay with indirect effects on mitochondrial energy metabolism.
Jennions E et al.
Journal of Inherited Metabolic Disease, 2019
TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants.
Dines JN et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
Bi-allelic Truncating Mutations in TANGO2 Cause Infancy-Onset Recurrent Metabolic Crises with Encephalocardiomyopathy.
Kremer LS et al.
American Journal of Human Genetics, 2016
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