Varaico: Literature-Extracted Genetic Variants

Gene:SPATA2
Variant:p.I131T
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SPATA2

NM_006038.4:p.I131T

Associated Papers

Lipopolysaccharide-responsive and beige-like anchor protein (LRBA) functional deficiency caused by biallelic LRBA missense variants characterized by Evans syndrome or colitis.

Chiang SCC et al.

The Journal of Allergy and Clinical Immunology, 2025

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