Varaico: Literature-Extracted Genetic Variants

Gene:TG
Variant:p.I1263_C1264insFs
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TG

NM_003235.5:p.I1263_C1264insFs

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

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

Thyroglobulin From Molecular and Cellular Biology to Clinical Endocrinology.

Di Jeso B et al.

Endocrine Reviews, 2016

Two novel mutations in the thyroglobulin gene as cause of congenital hypothyroidism: identification a cryptic donor splice site in the exon 19.

Targovnik HM et al.

Molecular and Cellular Endocrinology, 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."