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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SLC16A2

Variant:p.A435_L438insFs

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SLC16A2

NM_006517.5:p.A435_L438insFs

hg38:chrX:74529344 T>TGCATTTGA

Associated Papers

Extreme resistance to thyroid hormone caused by a novel mosaic thyroid hormone receptor beta mutation.

van Geest FS et al.

European Thyroid Journal, 2025

41159509 (PubMed )

Supplement: supplementary_materials.pdf

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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."