Varaico: Literature-Extracted Genetic Variants

Gene:TPO
Variant:p.W527C
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TPO

NM_001206744.2:p.W527C

Associated Papers

Mild TPO deficiency characterized by progressive goiter and normal serum TSH level.

Zhang J et al.

Endocrine, 2020

High frequency of mutations in 'dyshormonogenesis genes' in severe congenital hypothyroidism.

Makretskaya N et al.

Plos One, 2018

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

GESPA: classifying nsSNPs to predict disease association.

Khurana JK et al.

Bmc Bioinformatics, 2015

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

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

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

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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."