Varaico: Literature-Extracted Genetic Variants

Gene:TG
Variant:p.Q655*
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TG

NM_003235.5:p.Q655*

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

FinnGen provides genetic insights from a well-phenotyped isolated population.

Kurki MI et al.

Nature, 2023

Analysis of Worldwide Carrier Frequency and Predicted Genetic Prevalence of Autosomal Recessive Congenital Hypothyroidism Based on a General Population Database.

Park KS

Genes, 2021

Detection of Novel Gene Variants Associated with Congenital Hypothyroidism in a Finnish Patient Cohort.

Löf C et al.

Thyroid : Official Journal of the American Thyroid Association, 2016

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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."