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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TBXT

Variant:p.L82P

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TBXT

NM_001366285.2:p.L82P

hg38:chr6:166166818 A>G

Associated Papers

Uncovering the Genetic Landscape of Spinal Dysraphism: A Retrospective Analysis of 150 Fetal Cases.

Bedei I et al.

Prenatal Diagnosis, 2025

41388734 (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."