Varaico: Literature-Extracted Genetic Variants

Gene:TSHR
Variant:p.R2K
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TSHR

NM_000369.5:p.R2K

Associated Papers

WILMS TUMOR MUTATIONAL SUBCLASSES CONVERGE TO DRIVE CCND2 OVEREXPRESSION.

Xu L et al.

Medrxiv : the Preprint Server for Health Sciences, 2023

36778325 (PubMed )
Supplement: media-4.xlsx › Sheet1

Disorders of H2O2 generation.

Muzza M et al.

Best Practice & Research. Clinical Endocrinology & Metabolism, 2017

Identification of PENDRIN (SLC26A4) mutations in patients with congenital hypothyroidism and "apparent" thyroid dysgenesis.

Kühnen P et al.

The Journal of Clinical Endocrinology and Metabolism, 2014

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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."