Varaico: Literature-Extracted Genetic Variants

Gene:TPO
Variant:p.R314W
Back to variants list

TPO

NM_001206744.2:p.R314W

Associated Papers

Correlation of Genotype-Phenotype of Congenital Hypothyroidism Cohort Diagnosed by Newborn Screening: A Long-Term Observational Study.

Su Y et al.

International Journal of Neonatal Screening, 2025

Analysis of TPO gene in Turkish children with iodide organification defect: identification of a novel mutation.

Turkkahraman D et al.

Endocrine, 2010

Congenital hypothyroidism caused by a novel homozygous mutation in the thyroid peroxidase gene.

Fuchs O et al.

Journal of Pediatric Endocrinology & Metabolism : Jpem, 2008

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."