Varaico: Literature-Extracted Genetic Variants

Gene:HSD17B6
Variant:p.R158K
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HSD17B6

NM_003725.4:p.R158K

Associated Papers

The G473D mutation impairs dimerization and catalysis in human sulfite oxidase.

Wilson HL et al.

Biochemistry, 2006

The pathogenic human sulfite oxidase mutants G473D and A208D are defective in intramolecular electron transfer.

Feng C et al.

Biochemistry, 2005

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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."