Varaico: Literature-Extracted Genetic Variants

Gene:TSHR
Variant:p.P264S
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TSHR

NM_000369.5:p.P264S

Associated Papers

Update on Neonatal Isolated Hyperthyrotropinemia: A Systematic Review.

Chiesa AE et al.

Frontiers in Endocrinology, 2021

34484109 (PubMed )
Supplement: DataSheet_1.pdf

Long-term outcome of loss-of-function mutations in thyrotropin receptor gene.

Tenenbaum-Rakover Y et al.

Thyroid : Official Journal of the American Thyroid Association, 2015

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

Consecutive mutational events in a TSHR allele of Arab families with resistance to thyroid stimulating hormone.

Sriphrapradang C et al.

Thyroid : Official Journal of the American Thyroid Association, 2012

The coexistence of a novel inactivating mutant thyrotropin receptor allele with two thyroid peroxidase mutations: a genotype-phenotype correlation.

Sriphrapradang C et al.

The Journal of Clinical Endocrinology and Metabolism, 2011

Congenital Hypothyroidism Patients With Thyroid Hormone Receptor Variants Are Not Rare: A Systematic Review.

Da DZ et al.

Inquiry : a Journal of Medical Care Organization, Provision and Financing, 0

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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."