Varaico: Literature-Extracted Genetic Variants

Gene:TPO
Variant:p.H628delFs
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TPO

NM_001206744.2:p.H628delFs

Associated Papers

Targeted next-generation sequencing of thirteen causative genes in Chinese patients with congenital hypothyroidism.

Long W et al.

Endocrine Journal, 2018

Transient congenital hypothyroidism caused by biallelic mutations of the dual oxidase 2 gene in Japanese patients detected by a neonatal screening program.

Maruo Y et al.

The Journal of Clinical Endocrinology and Metabolism, 2008

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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."