Varaico: Literature-Extracted Genetic Variants

Gene:ETFDH
Variant:p.T242I
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ETFDH

NM_004453.4:p.T242I

Associated Papers

Novel variant of ETFDH leading to multiple acyl-CoA dehydrogenase deficiency by promoting protein degradation via ubiquitin proteasome pathway.

Zhang B et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2022

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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."