Associated Papers
Real-world evaluation of gnomAD variant co-occurrence information for haplotype phasing in autosomal recessive disorders.
Kim J et al.
Human Genomics, 2025
41331868 (PubMed )
Supplement: 40246_2025_855_MOESM1_ESM.xlsx › Table_S1.
Case Report: FAS spontaneous mutation in a familial hemophagocytic lymphohistiocytosis patient with a complex heterozygous mutation in PRF1.
Ding W et al.
Frontiers in Immunology, 2025
Familial Hemophagocytic Lymphohistiocytosis Type 2 Presenting With Isolated Facial Palsy.
Zou T et al.
Journal of Pediatric Hematology/oncology, 2024
A rare severe tuberculosis cutis orificialis in a patient with compound heterozygous mutations in the PRF1 gene.
Zhu L et al.
Journal of the European Academy of Dermatology and Venereology : Jeadv, 2023
Select a paper to view details