Varaico: Literature-Extracted Genetic Variants

Gene:HSD17B6
Variant:p.G175D
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HSD17B6

NM_003725.4:p.G175D

Associated Papers

Single Mutations in Cytochrome P450 Oxidoreductase Can Alter the Specificity of Human Cytochrome P450 1A2-Mediated Caffeine Metabolism.

Esteves F et al.

Biomolecules, 2023

The Role of the FMN-Domain of Human Cytochrome P450 Oxidoreductase in Its Promiscuous Interactions With Structurally Diverse Redox Partners.

Esteves F et al.

Frontiers in Pharmacology, 2020

Novel ETFDH mutations in four cases of riboflavin responsive multiple acyl-CoA dehydrogenase deficiency.

Fan X et al.

Molecular Genetics and Metabolism Reports, 2018

Riboflavin-responsive multiple Acyl-CoA dehydrogenation deficiency in 13 cases, and a literature review in mainland Chinese patients.

Zhu M et al.

Journal of Human Genetics, 2014

Molecular analysis of 51 unrelated pedigrees with late-onset multiple acyl-CoA dehydrogenation deficiency (MADD) in southern China confirmed the most common ETFDH mutation and high carrier frequency of c.250G>A.

Wang ZQ et al.

Journal of Molecular Medicine (berlin, Germany), 2011

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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."