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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:DUOX1

Variant:p.E402D

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DUOX1

NM_175940.3:p.E402D

hg38:chr15:45139158 A>T

Associated Papers

Genotype and phenotype correlation in a cohort of Chinese congenital hypothyroidism patients with DUOX2 mutations.

Zheng Z et al.

Annals of Translational Medicine, 2020

33490161 (PubMed )

Genetic disorders coupled to ROS deficiency.

O'Neill S et al.

Redox Biology, 2015

26210446 (PubMed )

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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."