Varaico: Literature-Extracted Genetic Variants

Gene:TBXAS1
Variant:p.G473W
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TBXAS1

NM_001061.7:p.G473W

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

The effects of pathogenic and likely pathogenic variants for inherited hemostasis disorders in 140 214 UK Biobank participants.

Stefanucci L et al.

Blood, 2023

37647632 (PubMed )
Supplement: BLOOD_BLD-2023-020118-mmc3.xlsx › ST3.3
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