Varaico: Literature-Extracted Genetic Variants

Gene:TG
Variant:p.L254insFs
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TG

NM_003235.5:p.L254insFs

Associated Papers

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

Thyroglobulin From Molecular and Cellular Biology to Clinical Endocrinology.

Di Jeso B et al.

Endocrine Reviews, 2016

Thyroglobulin gene mutations in congenital hypothyroidism.

Targovnik HM et al.

Hormone Research in Paediatrics, 2011

Genetics and phenomics of hypothyroidism and goiter due to thyroglobulin mutations.

Targovnik HM et al.

Molecular and Cellular Endocrinology, 2010

Congenital hypothyroidism with goitre caused by new mutations in the thyroglobulin gene.

Caputo M et al.

Clinical Endocrinology, 2007

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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."