Varaico: Literature-Extracted Genetic Variants

Gene:DUOX2
Variant:p.S363G
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DUOX2

NM_001363711.2:p.S363G

Associated Papers

Correlation of Genotype-Phenotype of Congenital Hypothyroidism Cohort Diagnosed by Newborn Screening: A Long-Term Observational Study.

Su Y et al.

International Journal of Neonatal Screening, 2025

41133710 (PubMed )
Supplement: IJNS-11-00098-s001.zip › IJNS-3862892-supplementary.pdf

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

Sun F et al.

Clinical Genetics, 2021

Genetic and Phenotypic Characteristics of Congenital Hypothyroidism in a Chinese Cohort.

Long W et al.

Frontiers in Endocrinology, 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

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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."