Varaico: Literature-Extracted Genetic Variants

Gene:EHHADH
Variant:p.G304Splc
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EHHADH

NM_001966.4:p.G304Splc

Associated Papers

Dimerization interface of 3-hydroxyacyl-CoA dehydrogenase tunes the formation of its catalytic intermediate.

Xu Y et al.

Plos One, 2014

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

Congenital hyperinsulinism due to mutations in HNF4A and HADH.

Kapoor RR et al.

Reviews in Endocrine & Metabolic Disorders, 2010

General mitochondrial trifunctional protein (TFP) deficiency as a result of either alpha- or beta-subunit mutations exhibits similar phenotypes because mutations in either subunit alter TFP complex expression and subunit turnover.

Spiekerkoetter U et al.

Pediatric Research, 2004

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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."