Varaico: Literature-Extracted Genetic Variants

Gene:ETFDH
Variant:p.A83T
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ETFDH

NM_004453.4:p.A83T

Associated Papers

ETFDH Mutations and Flavin Adenine Dinucleotide Homeostasis Disturbance Are Essential for Developing Riboflavin-Responsive Multiple Acyl-Coenzyme A Dehydrogenation Deficiency.

Xu J et al.

Annals of Neurology, 2018

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