Varaico: Literature-Extracted Genetic Variants

Gene:TRHR
Variant:p.A118T
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TRHR

NM_003301.7:p.A118T

Associated Papers

Diagnosis and Management of Central Congenital Hypothyroidism.

Lauffer P et al.

Frontiers in Endocrinology, 2021

34566885 (PubMed )
Supplement: Table_1.docx

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

Central Hypothyroidism Due to a TRHR Mutation Causing Impaired Ligand Affinity and Transactivation of Gq.

García M et al.

The Journal of Clinical Endocrinology and Metabolism, 2017

The multiple genetic causes of central hypothyroidism.

Persani L et al.

Best Practice & Research. Clinical Endocrinology & Metabolism, 2017

A Novel Thyrotropin-Releasing Hormone Receptor Missense Mutation (P81R) in Central Congenital Hypothyroidism.

Koulouri O et al.

The Journal of Clinical Endocrinology and Metabolism, 2016

Syndromes of hormone resistance in the hypothalamic-pituitary-thyroid axis.

Beck-Peccoz P et al.

Best Practice & Research. Clinical Endocrinology & Metabolism, 2006

Genetic defects in the development and function of the anterior pituitary gland.

Cushman LJ et al.

Annals of Medicine, 2002

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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."