Varaico: Literature-Extracted Genetic Variants

Gene:TANGO2
Variant:p.Q182*
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TANGO2

NM_152906.7:p.Q182*

Associated Papers

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."