Varaico: Literature-Extracted Genetic Variants

Gene:TPO
Variant:p.R491C
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TPO

NM_001206744.2:p.R491C

Associated Papers

Unraveling the genetic architecture of congenital vertebral malformation with reference to the developing spine.

Zhao S et al.

Nature Communications, 2024

38321032 (PubMed )
Supplement: 41467_2024_45442_MOESM10_ESM.xlsx › Sheet1

Disorders of H2O2 generation.

Muzza M et al.

Best Practice & Research. Clinical Endocrinology & Metabolism, 2017

High prevalence of DUOX2 gene mutations among children with congenital hypothyroidism in central China.

Jiang H et al.

European Journal of Medical Genetics, 2016

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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."