Varaico: Literature-Extracted Genetic Variants

Gene:TSHR
Variant:p.D460N
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TSHR

NM_000369.5:p.D460N

Associated Papers

Retrospective analysis and literature review of four cases of thyroid hormone resistance syndrome caused by THRB gene mutation.

Zhang L et al.

Translational Pediatrics, 2022

Structure and activation of the TSH receptor transmembrane domain.

Núñez Miguel R et al.

Auto- Immunity Highlights, 2017

Genetic defects, thyroid growth and malfunctions of the TSHR in pediatric patients.

Biebermann H et al.

Frontiers in Bioscience (landmark Edition), 2010

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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."