Varaico: Literature-Extracted Genetic Variants

Gene:DUOXA2
Variant:p.L112_T113delFs
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DUOXA2

NM_207581.4:p.L112_T113delFs

Associated Papers

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 mutations in children with congenital hypothyroidism].

Chai J et al.

Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 2015

[DUOX2 gene mutation in patients with congenital goiter with hypothyroidism].

Lü ZP et al.

Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2011

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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."