Varaico: Literature-Extracted Genetic Variants

Gene:DUOX2
Variant:p.S906P
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DUOX2

NM_001363711.2:p.S906P

Associated Papers

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

Mutational Spectrum Analysis of Seven Genes Associated with Thyroid Dyshormonogenesis.

Chen X et al.

International Journal of Endocrinology, 2018

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