Varaico: Literature-Extracted Genetic Variants

Gene:TPO
Variant:p.D620N
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TPO

NM_001206744.2:p.D620N

Associated Papers

Identification of Genetic Predisposition in Noncirrhotic Portal Hypertension Patients With Multiple Renal Cysts by Integrated Analysis of Whole-Genome and Single-Cell RNA Sequencing.

Wu Y et al.

Frontiers in Genetics, 2021

34868264 (PubMed )
Supplement: Table2.XLSX › Sheet1

Functional analysis of thyroid peroxidase gene mutations detected in patients with thyroid dyshormonogenesis.

Guria S et al.

International Journal of Endocrinology, 2014

Thyroperoxidase gene mutations in congenital goitrous hypothyroidism with total and partial iodide organification defect.

Nascimento AC et al.

Thyroid : Official Journal of the American Thyroid Association, 2003

A novel mutation in the human thyroid peroxidase gene resulting in a total iodide organification defect.

Kotani T et al.

The Journal of Endocrinology, 1999

Molecular analysis of mutated thyroid peroxidase detected in patients with total iodide organification defects.

Bikker H et al.

The Journal of Clinical Endocrinology and Metabolism, 1997

CTLA-4 gene polymorphisms are associated with obesity in Turner Syndrome.

Santos LOD et al.

Genetics and Molecular Biology, 0

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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."