Varaico: Literature-Extracted Genetic Variants

Gene:DUOXA2
Variant:p.V78M
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DUOXA2

NM_207581.4:p.V78M

Associated Papers

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

Du J et al.

Annals of Medicine, 2025

DUOX2 variants are a frequent cause of congenital primary hypothyroidism in Thai patients.

Sorapipatcharoen K et al.

Endocrine Connections, 2020

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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