Varaico: Literature-Extracted Genetic Variants

Gene:DUOX2
Variant:p.R541W
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DUOX2

NM_001363711.2:p.R541W

Associated Papers

Genetic Variants in Early-Onset Inflammatory Bowel Disease: Monogenic Causes and Clinical Implications.

Demirtas Guner D et al.

Children (basel, Switzerland), 2025

Correlation of DUOX2 residual enzymatic activity with phenotype in congenital hypothyroidism caused by biallelic DUOX2 defects.

Sun F et al.

Clinical Genetics, 2021

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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."