Varaico: Literature-Extracted Genetic Variants

Gene:ETFDH
Variant:p.G512R
Back to variants list

ETFDH

NM_004453.4:p.G512R

Associated Papers

The clinical, pathological, and genetic characteristics of lipid storage myopathy in northern China.

Han J et al.

Turkish Journal of Medical Sciences, 2022

Characterization of 31 Patients with Riboflavin-Responsive Multiple acyl-CoA Dehydrogenase Deficiency

Zhang J et al.

Balkan Medical Journal, 2022

Adolescent Hyperuricemia with Lipid Storage Myopathy: A Clinical Study.

Han J et al.

Medical Science Monitor : International Medical Journal of Experimental and Clinical Research, 2019

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."