Varaico: Literature-Extracted Genetic Variants

Gene:PRF1
Variant:p.G305S
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PRF1

NM_001083116.3:p.G305S

Associated Papers

Molecular dynamics simulations of perforin mutations associated with familial hemophagocytic lymphohistiocytosis type 2 among Indian patients.

Narayan AB et al.

International Journal of Biological Macromolecules, 2025

Beyond genotype: challenges in predicting disease risk for carriers of biallelic perforin variants.

Wegehaupt O et al.

Blood, 2025

40090000 (PubMed )
Supplement: BLOOD_BLD-2024-027954-mmc2.xlsx › Suppl._table_1
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