Varaico: Literature-Extracted Genetic Variants

Gene:TPO
Variant:p.C696S
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TPO

NM_001206744.2:p.C696S

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

Phenotypic Variability of Patients With PAX8 Variants Presenting With Congenital Hypothyroidism and Eutopic Thyroid.

Camats N et al.

The Journal of Clinical Endocrinology and Metabolism, 2021

Whole-exome sequencing of DNA from peripheral blood mononuclear cells (PBMC) and EBV-transformed lymphocytes from the same donor.

Londin ER et al.

Bmc Genomics, 2011

21943378 (PubMed )
Supplement: 1471-2164-12-464-S4.PDF
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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."