Varaico: Literature-Extracted Genetic Variants

Gene:TPO
Variant:p.Q315*
Back to variants list

TPO

NM_001206744.2:p.Q315*

Associated Papers

Functional Characterization of Thyroid Peroxidase Missense Variants Causing Thyroid Dyshormonogenesis in Asian Indian Population.

Dalal A et al.

Hormone Research in Paediatrics, 2025

Analysis of Worldwide Carrier Frequency and Predicted Genetic Prevalence of Autosomal Recessive Congenital Hypothyroidism Based on a General Population Database.

Park KS

Genes, 2021

34200080 (PubMed )
Supplement: genes-12-00863-s001.zip › Supplementary_Files_Rev1_v20210529_.xlsx › Table_S2

Segregation of S292F TPO gene mutation in three large Tunisian families with thyroid dyshormonogenesis: evidence of a founder effect.

Bougacha-Elleuch N et al.

European Journal of Pediatrics, 2015

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

Turkkahraman D et al.

Endocrine, 2010

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."