TERT c.3150 G > C (p.K1050N): a founder Ashkenazi Jewish variant associated with telomere biology disorders
TERT c.3150 G > C (p.K1050N):一种与端粒生物学疾病相关的德系犹太人创始变异
期刊:npj Genomic Medicine
影响因子:4.8
doi:10.1038/s41525-025-00501-8
de Andrade, Kelvin César; Pinto, Emilia M; Zhao, Tianna; Zeigler, Logan P; Kim, Jung; Giri, Neelam; Haley, Jeremy S; McReynolds, Lisa J; Florez-Vargas, Oscar; Phillips, Aaron H; Kriwacki, Richard W; Akinniyi, Sherifa A; Cohen, Scott B; Emerson, Matthew R; Smelser, Diane T; Urban, Gretchen M; Fridman, Cintia; Zambetti, Gerard P; Bryan, Tracy M; Carey, David J; Garcia, Christine Kim; Stewart, Douglas R; Savage, Sharon A