Varaico: Literature-Extracted Genetic Variants

Gene:TPO
Variant:p.R396C
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TPO

NM_001206744.2:p.R396C

Associated Papers

Analysis of Mutation Spectra of 28 Pathogenic Genes Associated With Congenital Hypothyroidism in the Chinese Han Population.

Huang M et al.

Frontiers in Endocrinology, 2021

Mild TPO deficiency characterized by progressive goiter and normal serum TSH level.

Zhang J et al.

Endocrine, 2020

Prevalence of c.2268dup and detection of two novel alterations, c.670_672del and c.1186C>T, in the TPO gene in a cohort of Malaysian-Chinese with thyroid dyshormonogenesis.

Lee CC et al.

Bmj Open, 2015

Novel genetic variants in the TPO gene cause congenital hypothyroidism.

Ma SG et al.

Scandinavian Journal of Clinical and Laboratory Investigation, 2015

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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."