Varaico: Literature-Extracted Genetic Variants

Gene:TPO
Variant:p.A489T
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TPO

NM_001206744.2:p.A489T

Associated Papers

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

Sun F et al.

European Journal of Endocrinology, 2018

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

Makretskaya N et al.

Plos One, 2018

A frequent oligogenic involvement in congenital hypothyroidism.

de Filippis T et al.

Human Molecular Genetics, 2017

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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."