Varaico: Literature-Extracted Genetic Variants

Gene:TPO
Variant:p.A419E
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TPO

NM_001206744.2:p.A419E

Associated Papers

Stochastic epigenetic mutations as possible explanation for phenotypical discordance among twins with congenital hypothyroidism.

Gentilini D et al.

Journal of Endocrinological Investigation, 2023

Neonatal Screening for Congenital Hypothyroidism: What Can We Learn From Discordant Twins?

Medda E et al.

The Journal of Clinical Endocrinology and Metabolism, 2019

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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."