Varaico: Literature-Extracted Genetic Variants

Gene:TG
Variant:p.C1281Y
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TG

NM_003235.5:p.C1281Y

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

Clinical and molecular study of patients with thyroid dyshormogenesis and variants in the thyroglobulin gene.

Fernández-Cancio M et al.

Frontiers in Endocrinology, 2024

The p.Cys1281Tyr variant in the hinge module/flap region of thyroglobulin causes intracellular transport disorder and congenital hypothyroidism.

Gomes Pio M et al.

Molecular and Cellular Endocrinology, 2023

Mono- and biallelic germline variants of DNA glycosylase genes in colon adenomatous polyposis families from two continents.

Olkinuora AP et al.

Frontiers in Oncology, 2022

36387175 (PubMed )
Supplement: Table_6.xlsx › Table_S6

Thyroglobulin From Molecular and Cellular Biology to Clinical Endocrinology.

Di Jeso B et al.

Endocrine Reviews, 2016

New insights into thyroglobulin gene: molecular analysis of seven novel mutations associated with goiter and hypothyroidism.

Citterio CE et al.

Molecular and Cellular Endocrinology, 2013

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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."