Genome mining yields new disease-associated ROMK variants with distinct defects
Nga H. Nguyen, Srikant Sarangi, Erin M. McChesney, Shaohu Sheng, Jacob D. Durrant, Aidan W. Porter, Thomas R. Kleyman, Zachary W. Pitluk, Jeffrey L. Brodsky
The paper identifies new disease-associated ROMK variants using genomic databases and computational tools, revealing distinct molecular defects in protein folding and function.
PLoS Genetics · Nov 13, 2023Peer-reviewedGenetics