Varaico: Literature-Extracted Genetic Variants

Gene:TANGO2
Variant:p.H94fs
Back to variants list

TANGO2

NM_152906.7:p.H94fs

Associated Papers

Natural history of TANGO2 deficiency disorder: Baseline assessment of 73 patients.

Miyake CY et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2023

Cardiac crises: Cardiac arrhythmias and cardiomyopathy during TANGO2 deficiency related metabolic crises.

Miyake CY et al.

Heart Rhythm, 2022

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

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."