Varaico: Literature-Extracted Genetic Variants

Gene:TPO
Variant:p.C800R
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TPO

NM_001206744.2:p.C800R

Associated Papers

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

Case Report: Functional Analysis and Neuropsychological Evaluation of Dyshormonogenetic Fetal Goiter in Siblings Caused by Novel Compound Hyterozygous TPO Gene Mutations.

Rodrigues TMB et al.

Frontiers in Endocrinology, 2021

34220711 (PubMed )
Supplement: DataSheet_1.pdf

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

Thyroid peroxidase gene mutations causing congenital hypothyroidism in three Turkish families.

Ozbek MN et al.

Journal of Pediatric Endocrinology & Metabolism : Jpem, 2009

Intrauterine therapy of goitrous hypothyroidism in a boy with a new compound heterozygous mutation (Y453D and C800R) in the thyroid peroxidase gene. A long-term follow-up.

Börgel K et al.

American Journal of Obstetrics and Gynecology, 2005

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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."