Telomerase activity in T-cells as a functional test for pathogenicity assessment of novel genetic variants in telomere biology disorders.
细胞端粒酶活性作为评估端粒生物学疾病中新型遗传变异致病性的功能性检测
期刊:Scientific Reports
影响因子:3.9
doi:10.1038/s41598-025-12566-7
Carlund Olivia, Norberg Anna, Osterman Pia, Andersson Ida, Eriksson Alva, Degerman Sofie, Hultdin Magnus