Varaico: Literature-Extracted Genetic Variants

Gene:TRHR
Variant:p.I40F
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TRHR

NM_003301.7:p.I40F

Associated Papers

DIAGNOSIS OF ENDOCRINE DISEASE: Congenital hypothyroidism: update and perspectives

Peters C et al.

European Journal of Endocrinology, 2018

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

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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."