Varaico: Literature-Extracted Genetic Variants

Gene:TPO
Variant:p.S292F
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TPO

NM_001206744.2:p.S292F

Associated Papers

Genetic Analyses in a Cohort of Pediatric Patients with Congenital Hypothyroidism Based on Congenital Hypothyroidism Consensus Guideline.

Kurnaz E et al.

Hormone Research in Paediatrics, 2026

Mutation screening of eight genes and comparison of the clinical data in a Chinese cohort with congenital hypothyroidism.

Li L et al.

Endocrine, 2023

Long-Term Outcome of Patients with TPO Mutations.

Tobias L et al.

Journal of Clinical Medicine, 2021

High Prevalence of Hearing Impairment in Primary Congenital Hypothyroidism.

Almagor T et al.

European Thyroid Journal, 2021

Thyroid Hypoplasia in Congenital Hypothyroidism Associated with Thyroid Peroxidase Mutations.

Stoupa A et al.

Thyroid : Official Journal of the American Thyroid Association, 2018

Erratum to: 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

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

TPO gene mutations associated with thyroid carcinoma: Case report and literature review.

Zhu H et al.

Cancer Biomarkers : Section a of Disease Markers, 2015

Minimally invasive follicular thyroid carcinoma developed in dyshormonogenetic multinodular goiter due to thyroid peroxidase gene mutation.

Chertok Shacham E et al.

Thyroid : Official Journal of the American Thyroid Association, 2012

Minimal Invasive Follicular Thyroid Carcinoma Developed in Dyshormonogenetic Multinodular Goiter Due to Thyroid Peroxidase Gene Mutation.

Rakover YT et al.

Thyroid : Official Journal of the American Thyroid Association, 2012

Clinical and genetic characteristics of congenital hypothyroidism due to mutations in the thyroid peroxidase (TPO) gene in Israelis.

Tenenbaum-Rakover Y et al.

Clinical Endocrinology, 2007

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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."