Varaico: Literature-Extracted Genetic Variants

Gene:TRHR
Variant:p.P81R
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TRHR

NM_003301.7:p.P81R

Associated Papers

Structural insights into ligand binding and activation of the human thyrotropin-releasing hormone receptor.

Xu Y et al.

Cell Research, 2022

Diagnosis and Management of Central Congenital Hypothyroidism.

Lauffer P et al.

Frontiers in Endocrinology, 2021

34566885 (PubMed )
Supplement: Table_1.docx

The Molecular Basis of Congenital Hypopituitarism and Related Disorders.

Gregory LC et al.

The Journal of Clinical Endocrinology and Metabolism, 2020

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

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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."