Varaico: Literature-Extracted Genetic Variants

Gene:ETFDH
Variant:p.S457P
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ETFDH

NM_004453.4:p.S457P

Associated Papers

Generation of a human induced pluripotent stem cell line (LZUSHi002-A) from a MADD patient with ETFDH mutation.

Li Y et al.

Stem Cell Research, 2022

[Multiple acyl-coA dehydrogenase deficiency caused by new variant of ETFDH gene in 2 children].

Li Y et al.

Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 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."