A Multi-State Structural Genomics Approach Enables Large-Scale, Mechanistic, and Context-Specific Classification of ABCC6 Genetic Variants Implicated in Calcification Diseases
Jessica B. Wagenknecht, Neshatul Haque, Salomao D. Jorge, Brian D. Ratnasinghe, Raul A. Urrutia, William A. Gahl, Shira G. Ziegler, Michael T. Zimmermann
The paper classifies ABCC6 genetic variants using structural genomics to identify pathogenic mechanisms and reclassify variants of uncertain significance.
International Journal of Molecular Sciences · Feb 14, 2026Peer-reviewedGenetics