Varaico: Literature-Extracted Genetic Variants

Gene:HSD17B7
Variant:p.C340R
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HSD17B7

NM_016371.4:p.C340R

Associated Papers

Comprehensive survey of disease-causing missense mutations of the cholesterol synthesis enzyme NSDHL: Low temperature and a chemical chaperone rescue low protein expression of select mutants.

Fenton NM et al.

The Journal of Steroid Biochemistry and Molecular Biology, 2025

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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."