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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TBX3

Variant:p.G282C

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TBX3

NM_005996.4:p.G282C

hg38:chr12:114677617 C>A

Associated Papers

TBX3- Related Disorder.

Halperin Z et al.

American Journal of Medical Genetics. Part A, 2026

40995837 (PubMed )

A family with an atypical presentation of TBX3-related disorder.

Osman K et al.

European Journal of Medical Genetics, 2025

39788453 (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."