Varaico: Literature-Extracted Genetic Variants

Gene:DUOX2
Variant:p.A366V
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DUOX2

NM_001363711.2:p.A366V

Associated Papers

The mutation screening in candidate genes related to thyroid dysgenesis by targeted next-generation sequencing panel in the Chinese congenital hypothyroidism.

Zhang RJ et al.

Clinical 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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