Varaico: Literature-Extracted Genetic Variants

Gene:TBXAS1
Variant:p.E273_R274Splc
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TBXAS1

NM_001061.7:p.E273_R274Splc

Associated Papers

TBXAS1 deficiency: a novel monogenic cause of chronic nonbacterial osteomyelitis responsive to COX inhibitors.

Kisla Ekinci RM et al.

Expert Review of Clinical Immunology, 2025

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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."