Varaico: Literature-Extracted Genetic Variants

Gene:TG
Variant:p.L571delFs
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TG

NM_003235.5:p.L571delFs

Associated Papers

Targeted next-generation sequencing of thirteen causative genes in Chinese patients with congenital hypothyroidism.

Long W et al.

Endocrine Journal, 2018

Thyroglobulin From Molecular and Cellular Biology to Clinical Endocrinology.

Di Jeso B et al.

Endocrine Reviews, 2016

A systematic review of genetic studies of thyroid disorders in Taiwan.

Huang CJ et al.

Journal of the Chinese Medical Association : Jcma, 2015

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

Six new mutations of the thyroglobulin gene discovered in taiwanese children presenting with thyroid dyshormonogenesis.

Niu DM et al.

The Journal of Clinical Endocrinology and Metabolism, 2009

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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."