Varaico: Literature-Extracted Genetic Variants

Gene:TG
Variant:p.R2585W
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TG

NM_003235.5:p.R2585W

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

The pharmacogenomic landscape in the Chinese: An analytics of pharmacogenetic variants in 206,640 individuals.

Wang LY et al.

Innovation (cambridge (mass.)), 2025

39991480 (PubMed )
Supplement: mmc5.xlsx › Sheet1

Mutation spectra and genotype‑phenotype analysis of congenital hypothyroidism in a neonatal population.

Huang X et al.

Biomedical Reports, 2025

Identification of southern Taiwan genetic variants in thyroid dyshormonogenesis through whole-exome sequencing.

Tsai CC et al.

The Kaohsiung Journal of Medical Sciences, 2024

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

Fernández-Cancio M et al.

Frontiers in Endocrinology, 2024

Structural features of thyroglobulin linked to protein trafficking.

Citterio CE et al.

Protein Science : a Publication of the Protein Society, 2023

The mutation screening in candidate genes related to thyroid dysgenesis by targeted next-generation sequencing panel in the Chinese congenital hypothyroidism.

Zhang RJ et al.

Clinical Endocrinology, 2022

Analysis of Mutation Spectra of 28 Pathogenic Genes Associated With Congenital Hypothyroidism in the Chinese Han Population.

Huang M et al.

Frontiers in Endocrinology, 2021

Mutation spectrum analysis of 29 causative genes in 43 Chinese patients with congenital hypothyroidism.

Wang H et al.

Molecular Medicine Reports, 2020

Congenital Primary Hypothyroidism with the Homozygous Nonsense Mutation P.K1374* in the Thyroglobulin Gene and a Normal-sized Thyroid Gland on Levothyroxine Replacement.

Mizokami T et al.

Internal Medicine (tokyo, Japan), 2019

Molecular characterization and integrative genomic analysis of a panel of newly established penile cancer cell lines.

Zhou QH et al.

Cell Death & Disease, 2018

29880898 (PubMed )
Supplement: 41419_2018_736_MOESM7_ESM.xlsx › Sheet1

The genetic characteristics of congenital hypothyroidism in China by comprehensive screening of 21 candidate genes.

Sun F et al.

European Journal of Endocrinology, 2018

29650690 (PubMed )
Supplement: eje-178-623-t001.pdf

Disorders of H2O2 generation.

Muzza M et al.

Best Practice & Research. Clinical Endocrinology & Metabolism, 2017

High prevalence of DUOX2 gene mutations among children with congenital hypothyroidism in central China.

Jiang H et al.

European Journal of Medical Genetics, 2016

Thyroglobulin gene mutations in Chinese patients with congenital hypothyroidism.

Hu X et al.

Molecular and Cellular Endocrinology, 2016

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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."