Varaico: Literature-Extracted Genetic Variants

Gene:TPO
Variant:p.C825R
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TPO

NM_001206744.2:p.C825R

Associated Papers

Correlation of Genotype-Phenotype of Congenital Hypothyroidism Cohort Diagnosed by Newborn Screening: A Long-Term Observational Study.

Su Y et al.

International Journal of Neonatal Screening, 2025

41133710 (PubMed )
Supplement: IJNS-11-00098-s001.zip › IJNS-3862892-supplementary.pdf

Disulfide Bonds of Thyroid Peroxidase Are Critical Elements for Subcellular Localization, Proteasome-Dependent Degradation, and Enzyme Activity.

Iwasaki H et al.

Thyroid : Official Journal of the American Thyroid Association, 2024

Functional analysis of thyroid peroxidase gene mutations resulting in congenital hypothyroidism.

Zhao D et al.

Clinical Endocrinology, 2020

A Novel Homozygous Mutation of Thyroid Peroxidase Gene Abolishes a Disulfide Bond Leading to Congenital Hypothyroidism.

Yakou F et al.

International Journal of Endocrinology, 2020

[Mutation of thyroid peroxidase gene in 35 patients with congenital hypothyroidism].

Li HF et al.

Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2011

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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."