Varaico: Literature-Extracted Genetic Variants

Gene:TG
Variant:p.R88W
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TG

NM_003235.5:p.R88W

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

Thyroglobulin gene mutations in Chinese patients with congenital hypothyroidism.

Hu X et al.

Molecular and Cellular Endocrinology, 2016

Characterization of wild-type and mutants of recombinant human GTP cyclohydrolase I: relationship to etiology of dopa-responsive dystonia.

Suzuki T et al.

Journal of Neurochemistry, 1999

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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."