Varaico: Literature-Extracted Genetic Variants

Gene:TANGO2
Variant:p.G113delFs
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TANGO2

NM_152906.7:p.G113delFs

Associated Papers

Systems-Level Integration of Multi-Omics Identifies Genetic Modifiers of TANGO2 Deficiency Disorder.

Airoldi M et al.

Biomolecules, 2025

Early initiation of B-vitamin supplementation may reduce symptoms and explain intrafamilial variability: Insights from two sibling pairs from the TANGO2 natural history study.

Miyake CY et al.

American Journal of Medical Genetics. Part A, 2023

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

Clinical and biological characterization of 20 patients with TANGO2 deficiency indicates novel triggers of metabolic crises and no primary energetic defect.

Bérat CM et al.

Journal of Inherited Metabolic Disease, 2021

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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."