Varaico: Literature-Extracted Genetic Variants

Gene:TPO
Variant:p.G387R
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TPO

NM_001206744.2:p.G387R

Associated Papers

Genetic Screening and Functional Analysis of Thyroid Peroxidase Variants in Chinese Patients with Congenital Hypothyroidism.

Zhang HY et al.

Hormone Research in Paediatrics, 2024

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

Zhang J et al.

Endocrine, 2020

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

Variable clinical phenotypes in a family with homozygous c.1159G>A mutation in the thyroid peroxidase gene.

Lee CC et al.

Hormone Research in Paediatrics, 2014

Two compound heterozygous mutations (c.215delA/c.2422T-->C and c.387delC/c.1159G-->A) in the thyroid peroxidase gene responsible for congenital goitre and iodide organification defect.

Rivolta CM et al.

Clinical Endocrinology, 2007

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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."