Varaico: Literature-Extracted Genetic Variants

Gene:TPO
Variant:p.G650E
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TPO

NM_001206744.2:p.G650E

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

Genetic and Phenotypic Characteristics of Congenital Hypothyroidism in a Chinese Cohort.

Long W et al.

Frontiers in Endocrinology, 2021

Screening and Functional Analysis of TPO Gene Mutations in a Cohort of Chinese Patients With Congenital Hypothyroidism.

Wang H et al.

Frontiers in Endocrinology, 2021

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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."