Varaico: Literature-Extracted Genetic Variants

Gene:DUOXA2
Variant:p.E128*
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DUOXA2

NM_207581.4:p.E128*

Associated Papers

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

Du J et al.

Annals of Medicine, 2025

Analysis of Worldwide Carrier Frequency and Predicted Genetic Prevalence of Autosomal Recessive Congenital Hypothyroidism Based on a General Population Database.

Park KS

Genes, 2021

34200080 (PubMed )
Supplement: genes-12-00863-s001.zip › Supplementary_Files_Rev1_v20210529_.xlsx › Table_S5

DUOX2/DUOXA2 Mutations Frequently Cause Congenital Hypothyroidism that Evades Detection on Newborn Screening in the United Kingdom.

Peters C et al.

Thyroid : Official Journal of the American Thyroid Association, 2019

31044655 (PubMed )
Supplement: Supp_Table3.pdf
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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."