Varaico: Literature-Extracted Genetic Variants

Gene:TBL1X
Variant:p.Y458C
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TBL1X

NM_005647.4:p.Y458C

Associated Papers

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

Hu Y et al.

Journal of Molecular Endocrinology, 2023

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

Sun Z et al.

Endocrinology, 2020

Genetics of Congenital Isolated TSH Deficiency: Mutation Screening of the Known Causative Genes and a Literature Review.

Sugisawa C et al.

The Journal of Clinical Endocrinology and Metabolism, 2019

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

García M et al.

Journal of the Endocrine Society, 2019

Recent advances in research on isolated congenital central hypothyroidism.

Tajima T et al.

Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology, 2019

Transducin β-like 1, X-linked and nuclear receptor co-repressor cooperatively augment the ligand-independent stimulation of TRH and TSHβ gene promoters by thyroid hormone receptors.

Takamizawa T et al.

Endocrine Journal, 2018

Mutations in TBL1X Are Associated With Central Hypothyroidism.

Heinen CA et al.

The Journal of Clinical Endocrinology and Metabolism, 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."