Varaico: Literature-Extracted Genetic Variants

Gene:ETFB
Variant:p.C42R
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ETFB

NM_001985.3:p.C42R

Associated Papers

Secondary coenzyme Q10 deficiencies in oxidative phosphorylation (OXPHOS) and non-OXPHOS disorders.

Yubero D et al.

Mitochondrion, 2016

Clinical and genetical heterogeneity of late-onset multiple acyl-coenzyme A dehydrogenase deficiency.

Grünert SC

Orphanet Journal of Rare Diseases, 2014

25200064 (PubMed )
Supplement: s13023-014-0117-5-S1.doc

Cystic renal dysplasia as a leading sign of inherited metabolic disease.

Distelmaier F et al.

Pediatric Nephrology (berlin, Germany), 2007

Late-onset form of beta-electron transfer flavoprotein deficiency.

Curcoy A et al.

Molecular Genetics and Metabolism, 2003

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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."