Varaico: Literature-Extracted Genetic Variants

Gene:DUOX2
Variant:p.Q556*
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DUOX2

NM_001363711.2:p.Q556*

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

Analysis of Worldwide Carrier Frequency and Predicted Genetic Prevalence of Autosomal Recessive Congenital Hypothyroidism Based on a General Population Database.

Park KS

Genes, 2021

34200080 (PubMed )
Supplement: genes-12-00863-s001.zip › Supplementary_Files_Rev1_v20210529_.xlsx › Table_S6

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."