Benchmarking Nanopore Sequencing for CLN2 (TPP1) Mutation Detection: Integrating Rapid Genomics and Orthogonal Validation for Precision Diagnostics
纳米孔测序在CLN2(TPP1)突变检测中的基准测试:整合快速基因组学和正交验证以实现精准诊断
期刊:International Journal of Molecular Sciences
影响因子:4.9
doi:10.3390/ijms26115037
Teker, Betül; Akan, Gökce; Kazan, Hasan Hüseyin; Özgen, Özge; Tatonyan, Suzin; Balci, Mehmet Cihan; Karaca, Meryem; Kurekci, Fulya; Yıldız, Edibe Pembegül; Güngor, Olcay; Deniz, Adnan; Gedikbasi, Asuman; Atalar, Fatmahan; Gokcay, Gülden Fatma; Poda, Mehves