Varaico: Literature-Extracted Genetic Variants

Gene:TSHR
Variant:p.P162L
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TSHR

NM_000369.5:p.P162L

Associated Papers

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

Frequent TSH receptor genetic alterations with variable signaling impairment in a large series of children with nonautoimmune isolated hyperthyrotropinemia.

Calebiro D et al.

The Journal of Clinical Endocrinology and Metabolism, 2012

TSHR is the main causative locus in autosomal recessively inherited thyroid dysgenesis.

Cangul H et al.

Journal of Pediatric Endocrinology & Metabolism : Jpem, 2012

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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."