Varaico: Literature-Extracted Genetic Variants

Gene:TPO
Variant:p.A801T
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TPO

NM_001206744.2:p.A801T

Associated Papers

Comparative analysis and characterization of mutated thyroid peroxidases with disturbance expressed on the cell surface.

Umeki K et al.

Molecular and Cellular Endocrinology, 2004

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

Two novel missense mutations in the thyroid peroxidase gene, R665W and G771R, result in a localization defect and cause congenital hypothyroidism.

Umeki K et al.

European Journal of Endocrinology, 2002

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