Varaico: Literature-Extracted Genetic Variants

Gene:ETFDH
Variant:p.A18fs
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ETFDH

NM_004453.4:p.A18fs

Associated Papers

Integrated analysis of germline and somatic variants in ovarian cancer.

Kanchi KL et al.

Nature Communications, 2014

24448499 (PubMed )
Supplement: NIHMS551112-supplement-13.xlsx › S_Data_12

Pregnancy of a patient with multiple Acyl-CoA dehydrogenation deficiency (MADD).

Trakadis Y et al.

Molecular Genetics and Metabolism, 2012

ETFDH mutations as a major cause of riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency.

Olsen RK et al.

Brain : a Journal of Neurology, 2007

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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."