Varaico: Literature-Extracted Genetic Variants

Gene:TSHR
Variant:p.P556R
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TSHR

NM_000369.5:p.P556R

Associated Papers

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

Cangul H et al.

Journal of Pediatric Endocrinology & Metabolism : Jpem, 2012

Mild and severe congenital primary hypothyroidism in two patients by thyrotropin receptor (TSHR) gene mutation.

Baş VN et al.

Journal of Pediatric Endocrinology & Metabolism : Jpem, 2012

Novel TSHR mutations in consanguineous families with congenital nongoitrous hypothyroidism.

Cangul H et al.

Clinical Endocrinology, 2010

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."