Varaico: Literature-Extracted Genetic Variants

Gene:DUOXA2
Variant:p.W191*
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DUOXA2

NM_207581.4:p.W191*

Associated Papers

The genetic spectrum features of 2261 Chinese children with epilepsy and intellectual disability.

Pang N et al.

Bmc Medicine, 2025

40598568 (PubMed )
Supplement: 12916_2025_4220_MOESM1_ESM.xlsx › Table_S3

Large-scale screening and functional study of DUOXA2 variant in 599 Chinese patients with congenital hypothyroidism.

Zhang HY et al.

European Journal of Endocrinology, 2025

[Genetic analysis of a fetus pedigree affected with Thyroid dyshormonogenesis type 5 combined with familial Neurofibromatosis type 1].

Zhou B et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2025

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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."