Varaico: Literature-Extracted Genetic Variants

Gene:TPO
Variant:p.L575del1
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TPO

NM_001206744.2:p.L575del1

Associated Papers

Case Report: Mild and complete thyroid peroxidase deficiency in a family with literature review.

Wu X et al.

Frontiers in Medicine, 2025

Update on Neonatal Isolated Hyperthyrotropinemia: A Systematic Review.

Chiesa AE et al.

Frontiers in Endocrinology, 2021

34484109 (PubMed )
Supplement: DataSheet_1.pdf

Defects in protein folding in congenital hypothyroidism.

Targovnik HM et al.

Molecular and Cellular Endocrinology, 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

Comparative analysis and characterization of mutated thyroid peroxidases with disturbance expressed on the cell surface.

Umeki K et al.

Molecular and Cellular Endocrinology, 2004

Partial iodide organification defect caused by a novel mutation of the thyroid peroxidase gene in three siblings.

Kotani T et al.

Clinical Endocrinology, 2003

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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."