Targeted long-read sequencing identifies missing pathogenic variants in unsolved Werner syndrome cases
靶向长读测序可识别未解决的沃纳综合征病例中缺失的致病变异
期刊:Journal of Medical Genetics
影响因子:3.5
doi:10.1136/jmedgenet-2022-108485
Danny E Miller, Lin Lee, Miranda Galey, Renuka Kandhaya-Pillai, Marc Tischkowitz, Deepak Amalnath, Avadh Vithlani, Koutaro Yokote, Hisaya Kato, Yoshiro Maezawa, Aki Takada-Watanabe, Minoru Takemoto, George M Martin, Evan E Eichler, Fuki M Hisama, Junko Oshima
