Varaico: Literature-Extracted Genetic Variants

Gene:TPO
Variant:p.V748M
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TPO

NM_001206744.2:p.V748M

Associated Papers

Functional Domain Mapping of TPO: Insights from Six Variants in Sudanese Kindreds with Congenital Hypothyroidism.

Islam MS et al.

The Journal of Clinical Endocrinology and Metabolism, 2025

Frequency of Mutations in the TPO Gene in Patients with Congenital Hypothyroidism Due to Dyshormonogenesis in Chile.

Arteaga-Jacobo MC et al.

Medicina (kaunas, Lithuania), 2024

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

Zhang HY et al.

Hormone Research in Paediatrics, 2024

Mutational screening of the TPO and DUOX2 genes in Argentinian children with congenital hypothyroidism due to thyroid dyshormonogenesis.

Molina MF et al.

Endocrine, 2022

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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."