Varaico: Literature-Extracted Genetic Variants

Gene:HADHA
Variant:p.P258L
Back to variants list

HADHA

NM_000182.5:p.P258L

Associated Papers

Novel insights into fatty acid oxidation, amino acid metabolism, and insulin secretion from studying patients with loss of function mutations in 3-hydroxyacyl-CoA dehydrogenase.

Heslegrave AJ et al.

The Journal of Clinical Endocrinology and Metabolism, 2013

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."