Varaico: Literature-Extracted Genetic Variants

Gene:HADH
Variant:p.S196delFs
Back to variants list

HADH

NM_005327.7:p.S196delFs

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

Short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: the clinical relevance of an early diagnosis and report of four new cases.

Martins E et al.

Journal of Inherited Metabolic Disease, 2011

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."