Varaico: Literature-Extracted Genetic Variants

Gene:DUOXA1
Variant:p.R56W
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DUOXA1

NM_001276266.2:p.R56W

Associated Papers

Identification of Two Missense Mutations in DUOX1 (p.R1307Q) and DUOXA1 (p.R56W) That Can Cause Congenital Hypothyroidism Through Impairing H2O2 Generation.

Liu S et al.

Frontiers in Endocrinology, 2019

The genetic characteristics of congenital hypothyroidism in China by comprehensive screening of 21 candidate genes.

Sun F et al.

European Journal of Endocrinology, 2018

29650690 (PubMed )
Supplement: eje-178-623-t002.pdf
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