Varaico: Literature-Extracted Genetic Variants

Gene:TPO
Variant:p.V484M
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TPO

NM_001206744.2:p.V484M

Associated Papers

Gene mutations in children with permanent congenital hypothyroidism in Yunnan, China.

Gong Y et al.

Zhejiang Da Xue Xue Bao. Yi Xue Ban = Journal of Zhejiang University. Medical Sciences, 2022

Case Report: Expanding the Digenic Variants Involved in Thyroid Hormone Synthesis-10 New Cases of Congenital Hypothyroidism and a Literature Review.

Yang R et al.

Frontiers in Genetics, 2021

34456971 (PubMed )
Supplement: Data_Sheet_2.PDF

High frequency of mutations in 'dyshormonogenesis genes' in severe congenital hypothyroidism.

Makretskaya N et al.

Plos One, 2018

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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."