Varaico: Literature-Extracted Genetic Variants

Gene:TG
Variant:p.C1077R
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TG

NM_003235.5:p.C1077R

Associated Papers

Public Cohort Analysis Identifies Thyroglobulin Variants as Hypothyroidism Risk Factors.

Hermanson JN et al.

Biorxiv : the Preprint Server for Biology, 2025

41394573 (PubMed )
Supplement: media-2.xlsx › Sheet1

Anaplastic Thyroid Cancer Arising from Dyshormonogenetic Goiter: c.3070T>C and Novel c.7070T>C Mutation in the Thyroglobulin Gene.

Yoon JH et al.

Thyroid : Official Journal of the American Thyroid Association, 2020

Thyroglobulin gene mutations in Chinese patients with congenital hypothyroidism.

Hu X et al.

Molecular and Cellular Endocrinology, 2016

Thyroglobulin From Molecular and Cellular Biology to Clinical Endocrinology.

Di Jeso B et al.

Endocrine Reviews, 2016

Thyroglobulin gene mutations in congenital hypothyroidism.

Targovnik HM et al.

Hormone Research in Paediatrics, 2011

Genetics and phenomics of hypothyroidism and goiter due to thyroglobulin mutations.

Targovnik HM et al.

Molecular and Cellular Endocrinology, 2010

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

[Thyroglobulin gene abnormalities].

Hishinuma A

Rinsho Byori. the Japanese Journal of Clinical Pathology, 2005

High incidence of thyroid cancer in long-standing goiters with thyroglobulin mutations.

Hishinuma A et al.

Thyroid : Official Journal of the American Thyroid Association, 2005

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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."