Varaico: Literature-Extracted Genetic Variants

Gene:TBL1X
Variant:p.R339*
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TBL1X

NM_005647.4:p.R339*

Associated Papers

Disturbed function of TBL1X has a differential effect on T3-regulated gene expression in two human liver cell models.

Hu Y et al.

European Thyroid Journal, 2024

The role of WD40 repeat-containing proteins in endocrine (dys)function.

Hu Y et al.

Journal of Molecular Endocrinology, 2023

Diagnosis and Management of Central Congenital Hypothyroidism.

Lauffer P et al.

Frontiers in Endocrinology, 2021

34566885 (PubMed )
Supplement: Table_1.docx

Nuclear Receptor Coactivators (NCOAs) and Corepressors (NCORs) in the Brain.

Sun Z et al.

Endocrinology, 2020

Central Hypothyroidism and Novel Clinical Phenotypes in Hemizygous Truncation of TBL1X.

García M et al.

Journal of the Endocrine Society, 2019

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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."