Varaico: Literature-Extracted Genetic Variants

Gene:THRB
Variant:p.L400R
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THRB

NM_001354712.2:p.L400R

Associated Papers

Role of thyroid hormones in craniofacial development.

Leitch VD et al.

Nature Reviews. Endocrinology, 2020

Role of Thyroid Hormones in Skeletal Development and Bone Maintenance.

Bassett JH et al.

Endocrine Reviews, 2016

Thyroid hormone receptors and resistance to thyroid hormone disorders.

Ortiga-Carvalho TM et al.

Nature Reviews. Endocrinology, 2014

Physiological consequences of the TRalpha1 aporeceptor state.

Mittag J et al.

Heart Failure Reviews, 2010

A point mutation in the activation function 2 domain of thyroid hormone receptor alpha1 expressed after CRE-mediated recombination partially recapitulates hypothyroidism.

Quignodon L et al.

Molecular Endocrinology (baltimore, Md.), 2007

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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."