Open access
Sep 2026
Long-read sequencing resolves complex CYP21A2 variants and identifies 2+0 carriers in 21-hydroxylase deficiency.
Long-read sequencing (LRS) provides a superior, integrated solution for the molecular diagnosis of 21-OHD, offering precise structural variant characterization, accurate carrier detection, and reliable breakpoint mapping.
Yan-Jie Xia, Di Cui, Dan-Hua Li et al.
· Journal of Molecular Diagnos... · 0 citations