Varaico: Literature-Extracted Genetic Variants

Gene:TH
Variant:p.L400R
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TH

NM_000360.4:p.L400R

Associated Papers

Role of Thyroid Hormones in Skeletal Development and Bone Maintenance.

Bassett JH et al.

Endocrine Reviews, 2016

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."