Varaico: Literature-Extracted Genetic Variants

Gene:DUOX2
Variant:p.L667delFs
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DUOX2

NM_001363711.2:p.L667delFs

Associated Papers

Genetic Etiology of Permanent Congenital Hypothyroidism in Korean Patients: A Whole-Exome Sequencing Study.

Ahn J et al.

International Journal of Molecular Sciences, 2025

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

DUOX2 Mutations Are Frequently Associated With Congenital Hypothyroidism in the Korean Population.

Park KJ et al.

Annals of Laboratory Medicine, 2016

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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."