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Paper Details

Variable clinical severity in TANGO2 deficiency: Case series and literature review.
Am J Med Genet A
17
2022
TANGO2, TANGO2 (transport and Golgi organization 2 homolog) gene, TANGO2 deficiency, TANGO2 gene, abnormalities of long-chain acylcarnitines, acute metabolic crisis, acylcarnitines, creatine, creatine kinase, developmental delay, dicarboxylic acids, encephalopathy, exons 3-9, fatty acid, hypothyroidism, intellectual disability, ketotic hypoglycemia, lactic acidosis, metabolic disorder, neurologic abnormalities, patients, rhabdomyolysis, tachyarrhythmias, transport and Golgi organization 2 homolog
Author NameAffiliation
Tina M CowanStanford University School of Medicine
Tina M CowanStanford University School of Medicine
Liliana FernandezStanford Center for Undiagnosed Diseases
Matthew T WheelerStanford Center for Undiagnosed Diseases
Matthew T WheelerStanford University School of Medicine
Matthew T WheelerStanford Center for Undiagnosed Diseases
Matthew T WheelerStanford University School of Medicine
Jonathan A BernsteinStanford University School of Medicine
Jonathan A BernsteinStanford Center for Undiagnosed Diseases
Gregory M EnnsStanford University School of Medicine
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