Varaico: Literature-Extracted Genetic Variants

Gene:TPO
Variant:p.Q273_L274Splc
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TPO

NM_001206744.2:p.Q273_L274Splc

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

A systematic review of genetic studies of thyroid disorders in Taiwan.

Huang CJ et al.

Journal of the Chinese Medical Association : Jcma, 2015

Analysis of the SLC26A4 gene in patients with Pendred syndrome in Taiwan.

Lai CC et al.

Metabolism: Clinical and Experimental, 2007

Association of SLC26A4 mutations with clinical features and thyroid function in deaf infants with enlarged vestibular aqueduct.

Iwasaki S et al.

Journal of Human Genetics, 2006

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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."