Varaico: Literature-Extracted Genetic Variants

Gene:HSD17B6
Variant:p.M1V
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HSD17B6

NM_003725.4:p.M1V

Associated Papers

Human Disorders Affecting the Selenocysteine Incorporation Pathway Cause Systemic Selenoprotein Deficiency.

Schoenmakers E et al.

Antioxidants & Redox Signaling, 2020

Understanding the role of OXPHOS dysfunction in the pathogenesis of ECHS1 deficiency.

Burgin HJ et al.

Febs Letters, 2020

Interindividual variability of CYP2C19-catalyzed drug metabolism due to differences in gene diplotypes and cytochrome P450 oxidoreductase content.

Shirasaka Y et al.

The Pharmacogenomics Journal, 2016

Single nucleotide polymorphisms of Toll-like receptors and susceptibility to infectious diseases.

Skevaki C et al.

Clinical and Experimental Immunology, 2015

Single nucleotide polymorphisms of HER2 related to osteosarcoma susceptibility.

Xin DJ et al.

International Journal of Clinical and Experimental Pathology, 2015

The genetics of innate immunity sensors and human disease.

Pothlichet J et al.

International Reviews of Immunology, 2013

One single in-frame AUG codon is responsible for a diversity of subcellular localizations of glutaredoxin 2 in Saccharomyces cerevisiae.

Porras P et al.

The Journal of Biological Chemistry, 2006

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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."