Varaico: Literature-Extracted Genetic Variants

Gene:DUOX2
Variant:p.V674G
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DUOX2

NM_001363711.2:p.V674G

Associated Papers

Genetic disorders coupled to ROS deficiency.

O'Neill S et al.

Redox Biology, 2015

Hypothyroidism-associated missense mutation impairs NADPH oxidase activity and intracellular trafficking of Duox2.

Donkó Á et al.

Free Radical Biology & Medicine, 2014

Mice deficient in dual oxidase maturation factors are severely hypothyroid.

Grasberger H et al.

Molecular Endocrinology (baltimore, Md.), 2012

Congenital hypothyroidism, dwarfism, and hearing impairment caused by a missense mutation in the mouse dual oxidase 2 gene, Duox2.

Johnson KR et al.

Molecular Endocrinology (baltimore, Md.), 2007

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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."