Varaico: Literature-Extracted Genetic Variants

Gene:TSHR
Variant:p.W520*
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TSHR

NM_000369.5:p.W520*

Associated Papers

The W520X mutation in the TSHR gene brings on subclinical hypothyroidism through an haploinsufficiency mechanism.

Moia S et al.

Journal of Endocrinological Investigation, 2013

Current loss-of-function mutations in the thyrotropin receptor gene: when to investigate, clinical effects, and treatment.

Cassio A et al.

Journal of Clinical Research in Pediatric Endocrinology, 2013

Genetics and phenomics of hypothyroidism due to TSH resistance.

Persani L et al.

Molecular and Cellular Endocrinology, 2010

Subclinical hypothyroidism in children and adolescents: a wide range of clinical, biochemical, and genetic factors involved.

Rapa A et al.

The Journal of Clinical Endocrinology and Metabolism, 2009

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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."