Varaico: Literature-Extracted Genetic Variants

Gene:TG
Variant:p.R896Q
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TG

NM_003235.5:p.R896Q

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

Conservative Treatment of Fetal Goitrous Hypothyroidism Due to Thyroglobulin Mutations: A Case Report and Literature Review.

Liu S et al.

Maternal-fetal Medicine (wolters Kluwer Health, Inc.), 2023

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

Wang H et al.

Molecular Medicine Reports, 2020

Clinical and genetic analysis of a compound heterozygous mutation in the thyroglobulin gene in a Chinese twin family with congenital goiter and hypothyroidism.

Liu S et al.

Twin Research and Human Genetics : the Official Journal of the International Society for Twin Studies, 2012

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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."