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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:DUOX2

Variant:p.N1115K

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DUOX2

NM_001363711.2:p.N1115K

hg38:chr15:45099732 G>C

Associated Papers

Digenic Inheritance Mode in Congenital Hypothyroidism Due to Thyroid Dysgenesis: HYPOTYGEN Translational Cohort Study.

Stoupa A et al.

The Journal of Clinical Endocrinology and Metabolism, 2025

39787321 (PubMed )

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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."