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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ITPR3

Variant:p.R2524G

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ITPR3

NM_002224.4:p.R2524G

hg38:chr6:33692839 C>G

Associated Papers

Two cases of combined immunodeficiency with ITPR3 mutations presenting with life-threatening severe EBV-associated hemophagocytic lymphohistiocytosis.

Yu L et al.

Frontiers in Immunology, 2025

41019080 (PubMed )

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