Varaico: Literature-Extracted Genetic Variants

Gene:DUOXA2
Variant:p.Y138_A139insFs
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DUOXA2

NM_207581.4:p.Y138_A139insFs

Associated Papers

The role of DUOXA2 in the clinical diagnosis of paediatric congenital hypothyroidism.

Du J et al.

Annals of Medicine, 2025

Complicated Relationship between Genetic Mutations and Phenotypic Characteristics in Transient and Permanent Congenital Hypothyroidism: Analysis of Pooled Literature Data.

Long W et al.

International Journal of Endocrinology, 2020

32565793 (PubMed )
Supplement: 6808517.f1.zip › 6808517.f1 › supplement_table_1.xlsx › Supplement_Table_1

[Characteristics of DUOXA2 gene mutation in children with congenital hypothyroidism].

Tan MY et al.

Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 2017

A novel dual oxidase maturation factor 2 gene mutation for congenital hypothyroidism.

Yi RH et al.

International Journal of Molecular Medicine, 2013

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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."