Varaico: Literature-Extracted Genetic Variants

Gene:DUOX2
Variant:p.T522delFs
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DUOX2

NM_001363711.2:p.T522delFs

Associated Papers

Diaphyseal and Metaphyseal Modeling Defects-Clinical Findings and Identification of WRAP53 Deficiency in Craniometadiaphyseal Dysplasia.

Hao Y et al.

Frontiers in Genetics, 2021

The clinical and molecular characterization of patients with dyshormonogenic congenital hypothyroidism reveals specific diagnostic clues for DUOX2 defects.

Muzza M et al.

The Journal of Clinical Endocrinology and Metabolism, 2014

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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."