Varaico: Literature-Extracted Genetic Variants

Gene:TPO
Variant:p.E673K
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TPO

NM_001206744.2:p.E673K

Associated Papers

Genetic Etiology of Permanent Congenital Hypothyroidism in Korean Patients: A Whole-Exome Sequencing Study.

Ahn J et al.

International Journal of Molecular Sciences, 2025

Mutation spectra and genotype‑phenotype analysis of congenital hypothyroidism in a neonatal population.

Huang X et al.

Biomedical Reports, 2025

Differential Mutation Detection Capability Through Capture-Based Targeted Sequencing in Plasma Samples in Hepatocellular Carcinoma.

Gao J et al.

Frontiers in Oncology, 2021

33996539 (PubMed )
Supplement: DataSheet_8.xlsx › Table_S3

Screening and Functional Analysis of TPO Gene Mutations in a Cohort of Chinese Patients With Congenital Hypothyroidism.

Wang H et al.

Frontiers in Endocrinology, 2021

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

Makretskaya N et al.

Plos One, 2018

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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."