Varaico: Literature-Extracted Genetic Variants

Gene:CKM
Variant:p.R43Q
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CKM

NM_001824.5:p.R43Q

Associated Papers

Mutations in muscle-type creatine kinase impact HIV prevention.

Migliorati JM et al.

Trends in Pharmacological Sciences, 2022

Naturally Occurring Mutations to Muscle-Type Creatine Kinase Impact Its Canonical and Pharmacological Activities in a Substrate-Dependent Manner In Vitro.

Mosher EP et al.

Molecular Pharmacology, 2021

LCAT, HDL cholesterol and ischemic cardiovascular disease: a Mendelian randomization study of HDL cholesterol in 54,500 individuals.

Haase CL et al.

The Journal of Clinical Endocrinology and Metabolism, 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."