Varaico: Literature-Extracted Genetic Variants

Gene:HSD17B6
Variant:p.L27V
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HSD17B6

NM_003725.4:p.L27V

Associated Papers

Missense VKOR mutants exhibit severe warfarin resistance but lack VKCFD via shifting to an aberrantly reduced state.

Li S et al.

Blood Advances, 2023

Human VKORC1 mutations cause variable degrees of 4-hydroxycoumarin resistance and affect putative warfarin binding interfaces.

Czogalla KJ et al.

Blood, 2013

VKORC1 mutations detected in patients resistant to vitamin K antagonists are not all associated with a resistant VKOR activity.

Hodroge A et al.

Journal of Thrombosis and Haemostasis : Jth, 2012

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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."