Varaico: Literature-Extracted Genetic Variants

Gene:DUOXA2
Variant:p.R94C
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DUOXA2

NM_207581.4:p.R94C

Associated Papers

Large-scale screening and functional study of DUOXA2 variant in 599 Chinese patients with congenital hypothyroidism.

Zhang HY et al.

European Journal of Endocrinology, 2025

Mutation spectrum analysis of 29 causative genes in 43 Chinese patients with congenital hypothyroidism.

Wang H et al.

Molecular Medicine Reports, 2020

A Population-Based Genomic Study of Inherited Metabolic Diseases Detected Through Newborn Screening.

Park KJ et al.

Annals of Laboratory Medicine, 2016

DUOX2 Mutations Are Frequently Associated With Congenital Hypothyroidism in the Korean Population.

Park KJ et al.

Annals of Laboratory Medicine, 2016

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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."