Is a variant of uncertain significance always 'insignificant'? A systematic review on PRF1 A91V in Hemophagocytic Lymphohistocytosis and comparative analysis with Still's disease
意义未明的变异总是“无关紧要”吗?关于噬血细胞性淋巴组织细胞增生症中PRF1 A91V的系统性综述及其与斯蒂尔病的比较分析
期刊:Orphanet Journal of Rare Diseases
影响因子:3.5
doi:10.1186/s13023-026-04296-4
Çakır, İbrahim Yahya; Erden, Abdulsamet; Bölek, Ertuğrul Çağrı; Mulayim, M Fatih; Duran, Rahime; Karaduman, İbrahim; Eseroğlu, Esma; Karakaya, Burak; Köksoy, Büşra; Babazade, Ali; Kayhan, Gulsum; Küçük, Hamit; Ergun, Mehmet Ali; Tufan, Abdurrahman; Öztürk, Mehmet Akif