Varaico: Literature-Extracted Genetic Variants

Gene:TPO
Variant:p.R291H
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TPO

NM_001206744.2:p.R291H

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

41133710 (PubMed )
Supplement: IJNS-11-00098-s001.zip › IJNS-3862892-supplementary.pdf

Comprehensive Screening of Eight Known Causative Genes in Congenital Hypothyroidism With Gland-in-Situ.

Nicholas AK et al.

The Journal of Clinical Endocrinology and Metabolism, 2016

Detection of Novel Gene Variants Associated with Congenital Hypothyroidism in a Finnish Patient Cohort.

Löf C et al.

Thyroid : Official Journal of the American Thyroid Association, 2016

27373559 (PubMed )
Supplement: Supp_Table1.pdf
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