Associated Papers
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
Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.
Pejaver V et al.
American Journal of Human Genetics, 2022
36413997 (PubMed )
Supplement: mmc4.xlsx › clinvar_20201219
Digenic Inheritance: Evidence and Gaps in Hemophagocytic Lymphohistiocytosis.
Steen EA et al.
Frontiers in Immunology, 2021
RF1 Gene Mutation in Familial Hemophagocytic Lymphohistiocytosis 2: A Family Report and Literature Review.
Shi Y et al.
Pharmacogenomics and Personalized Medicine, 2021
Hypomorphic mutations in PRF1, MUNC13-4, and STXBP2 are associated with adult-onset familial HLH.
Zhang K et al.
Blood, 2011
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