Varaico: Literature-Extracted Genetic Variants

Gene:TBL1X
Variant:p.Y458C
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TBL1X

NM_001139468.1:p.Y458C

Associated Papers

Mutant Tbl1x male mice have a short life span and do not breed: unexpected findings.

Hu Y et al.

Journal of Molecular Endocrinology, 2024

Clinical and molecular analyses of isolated central congenital hypothyroidism based on a survey conducted in Japan.

Shibata N et al.

Endocrine Journal, 2024

Diagnosis and Management of Central Congenital Hypothyroidism.

Lauffer P et al.

Frontiers in Endocrinology, 2021

34566885 (PubMed )
Supplement: Table_1.docx

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."