Is a variant of uncertain significance always 'insignificant'? A systematic review on PRF1 A91V in Hemophagocytic Lymphohistocytosis and comparative analysis with Still's disease.


Çakır İ. Y., Erden A., Bölek E. Ç., Mulayim M. F., Duran R., Karaduman İ., ...More

Orphanet journal of rare diseases, 2026 (SCI-Expanded, Scopus) identifier

  • Publication Type: Article / Article
  • Volume:
  • Publication Date: 2026
  • Doi Number: 10.1186/s13023-026-04296-4
  • Journal Name: Orphanet journal of rare diseases
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, CINAHL, EMBASE, MEDLINE, Directory of Open Access Journals
  • Gazi University Affiliated: Yes