Varaico: Literature-Extracted Genetic Variants

Gene:TANGO2
Variant:p.L20P
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TANGO2

NM_152906.7:p.L20P

Associated Papers

Primary mitochondrial disorders and mimics: Insights from a large French cohort.

Rouzier C et al.

Annals of Clinical and Translational Neurology, 2024

38703036 (PubMed )
Supplement: ACN3-11-1478-s001.xlsx › Feuil2

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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