Varaico: Literature-Extracted Genetic Variants

Gene:ETFB
Variant:p.K202del1
Back to variants list

ETFB

NM_001985.3:p.K202del1

Associated Papers

Future of Dutch NGS-Based Newborn Screening: Exploring the Technical Possibilities and Assessment of a Variant Classification Strategy.

Kiewiet G et al.

International Journal of Neonatal Screening, 2024

Screening of multiple acyl-CoA dehydrogenase deficiency in newborns and follow-up of patients.

Zhou D et al.

Zhejiang Da Xue Xue Bao. Yi Xue Ban = Journal of Zhejiang University. Medical Sciences, 2021

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

Yubero D et al.

Mitochondrion, 2016

The Cardiomyocyte RNA-Binding Proteome: Links to Intermediary Metabolism and Heart Disease.

Liao Y et al.

Cell Reports, 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

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

Curcoy A et al.

Molecular Genetics and Metabolism, 2003

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."