Varaico: Literature-Extracted Genetic Variants

Gene:DUOX1
Variant:p.Q628delFs
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DUOX1

NM_175940.3:p.Q628delFs

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

Transient congenital hypothyroidism caused by biallelic mutations of the dual oxidase 2 gene in Japanese patients detected by a neonatal screening program.

Maruo Y et al.

The Journal of Clinical Endocrinology and Metabolism, 2008

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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."