Varaico: Literature-Extracted Genetic Variants

Gene:ACADVL
Variant:p.D257delFs
Back to variants list

ACADVL

NM_000018.4:p.D257delFs

Associated Papers

The diagnostic challenge in very-long chain acyl-CoA dehydrogenase deficiency (VLCADD).

Hesse J et al.

Journal of Inherited Metabolic Disease, 2018

A young woman with persistent hypoglycemia, rhabdomyolysis, and coma: recognizing fatty acid oxidation defects in adults.

Kluge S et al.

Critical Care Medicine, 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."