Varaico: Literature-Extracted Genetic Variants

Gene:TG
Variant:p.G815R
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TG

NM_003235.5:p.G815R

Associated Papers

The p.Pro2232Leu variant in the ChEL domain of thyroglobulin gene causes intracellular transport disorder and congenital hypothyroidism.

Siffo S et al.

Endocrine, 2023

Thyroglobulin gene mutations in Chinese patients with congenital hypothyroidism.

Hu X et al.

Molecular and Cellular Endocrinology, 2016

Novel mutational mechanism in the thyroglobulin gene: imperfect DNA inversion as a cause for hereditary hypothyroidism.

Citterio CE et al.

Molecular and Cellular Endocrinology, 2013

Six new mutations of the thyroglobulin gene discovered in taiwanese children presenting with thyroid dyshormonogenesis.

Niu DM et al.

The Journal of Clinical Endocrinology and Metabolism, 2009

Molecular advances in thyroglobulin disorders.

Rivolta CM et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2006

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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."