Varaico: Literature-Extracted Genetic Variants

Gene:DUOX2
Variant:p.T522fs
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DUOX2

NM_001363711.2:p.T522fs

Associated Papers

Complicated Relationship between Genetic Mutations and Phenotypic Characteristics in Transient and Permanent Congenital Hypothyroidism: Analysis of Pooled Literature Data.

Long W et al.

International Journal of Endocrinology, 2020

32565793 (PubMed )
Supplement: 6808517.f1.zip › 6808517.f1 › supplement_table_1.xlsx › Supplement_Table_1

Digenic DUOX1 and DUOX2 Mutations in Cases With Congenital Hypothyroidism.

Aycan Z et al.

The Journal of Clinical Endocrinology and Metabolism, 2017

The clinical and molecular characterization of patients with dyshormonogenic congenital hypothyroidism reveals specific diagnostic clues for DUOX2 defects.

Muzza M et al.

The Journal of Clinical Endocrinology and Metabolism, 2014

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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."