Novel regulatory variant in ABO intronic RUNX1 binding site inducing A3 phenotype
Gian Andri Thun, Morgan Gueuning, Sonja Sigurdardottir, Eduardo Meyer, Elise Gourri, Linda H. Schneider, Yvonne Merki, Nadine Trost, Kathrin Neuenschwander, Charlotte Engström, Beat M. Frey, Stefan Meyer, Maja P. Mattle‐Greminger
The paper identifies a novel regulatory variant in the ABO gene's RUNX1 binding site associated with an A3 blood phenotype using long-read sequencing.
Vox Sanguinis · Jan 16, 2024Peer-reviewedGenetics