Varaico: Literature-Extracted Genetic Variants

Gene:TPO
Variant:p.G533C
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TPO

NM_001206744.2:p.G533C

Associated Papers

Update on Neonatal Isolated Hyperthyrotropinemia: A Systematic Review.

Chiesa AE et al.

Frontiers in Endocrinology, 2021

34484109 (PubMed )
Supplement: DataSheet_1.pdf

Defects in protein folding in congenital hypothyroidism.

Targovnik HM et al.

Molecular and Cellular Endocrinology, 2020

GESPA: classifying nsSNPs to predict disease association.

Khurana JK et al.

Bmc Bioinformatics, 2015

26206375 (PubMed )
Supplement: 12859_2015_673_MOESM2_ESM.xls › Sheet1

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

Partial iodide organification defect caused by a novel mutation of the thyroid peroxidase gene in three siblings.

Kotani T et al.

Clinical Endocrinology, 2003

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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."