Varaico: Literature-Extracted Genetic Variants

Gene:DUOX2
Variant:p.D932N
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DUOX2

NM_001363711.2:p.D932N

Associated Papers

Mutation Screening and Functional Study of SLC26A4 in Chinese Patients with Congenital Hypothyroidism

Zhang CR et al.

Journal of Clinical Research in Pediatric Endocrinology, 2022

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

Sun F et al.

Clinical Genetics, 2021

The genetic characteristics of congenital hypothyroidism in China by comprehensive screening of 21 candidate genes.

Sun F et al.

European Journal of Endocrinology, 2018

29650690 (PubMed )
Supplement: eje-178-623-t001.pdf
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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."