Varaico: Literature-Extracted Genetic Variants

Gene:TPO
Variant:p.V748delFs
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TPO

NM_001206744.2:p.V748delFs

Associated Papers

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

Huang CJ et al.

Journal of the Chinese Medical Association : Jcma, 2015

Thyroperoxidase gene mutations in congenital goitrous hypothyroidism with total and partial iodide organification defect.

Nascimento AC et al.

Thyroid : Official Journal of the American Thyroid Association, 2003

High prevalence of a novel mutation (2268 insT) of the thyroid peroxidase gene in Taiwanese patients with total iodide organification defect, and evidence for a founder effect.

Niu DM et al.

The Journal of Clinical Endocrinology and Metabolism, 2002

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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."