Varaico: Literature-Extracted Genetic Variants

Gene:TANGO2
Variant:p.R26K
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TANGO2

NM_152906.7:p.R26K

Associated Papers

The Crystal Structure of Human Transport and Golgi Organization 2 Homolog (TANGO2) Protein Reveals an αββα-Fold Arrangement.

Cooper A et al.

Proteins, 2026

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

Variable clinical severity in TANGO2 deficiency: Case series and literature review.

Schymick J et al.

American Journal of Medical Genetics. Part A, 2022

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

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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."