Varaico: Literature-Extracted Genetic Variants

Gene:TPO
Variant:p.E337K
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TPO

NM_001206744.2:p.E337K

Associated Papers

Functional Domain Mapping of TPO: Insights from Six Variants in Sudanese Kindreds with Congenital Hypothyroidism.

Islam MS et al.

The Journal of Clinical Endocrinology and Metabolism, 2025

Screening and Functional Analysis of TPO Gene Mutations in a Cohort of Chinese Patients With Congenital Hypothyroidism.

Wang H et al.

Frontiers in Endocrinology, 2021

Mild TPO deficiency characterized by progressive goiter and normal serum TSH level.

Zhang J et al.

Endocrine, 2020

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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."