Varaico: Literature-Extracted Genetic Variants

Gene:TG
Variant:p.E2240*
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TG

NM_003235.5:p.E2240*

Associated Papers

Concomitant Mutations in the Thyroglobulin and SLC26A4 Genes Leading to Fetal Goiter and Congenital Hypothyroidism in a Patient With Pendred Syndrome.

Calcaterra V et al.

Case Reports in Endocrinology, 2025

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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."