Varaico: Literature-Extracted Genetic Variants

Gene:TPO
Variant:p.Q446H
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TPO

NM_001206744.2:p.Q446H

Associated Papers

Mild thyroid peroxidase deficiency caused by TPO mutations with residual activity: Correlation between clinical phenotypes and enzymatic activity.

Narumi S et al.

Endocrine Journal, 2017

Two novel mutations in the human thyroid peroxidase (TPO) gene: genetics and clinical findings in four children.

Simm D et al.

Acta Paediatrica (oslo, Norway : 1992), 2009

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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."