Publication
Whole exome sequencing identified ATP6V1C2 as a novel candidate gene for recessive distal renal tubular acidosis
Tilman Jobst-Schwan, Verena Klämbt, Maureen Tarsio, John F. Heneghan, Amar J. Majmundar, Shirlee Shril, Florian Buerger, Isabel Ottlewski, Boris E. Shmukler, Rezan Topaloglu, Seema Hashmi, Farkhanda Hafeez, Francesco Emma, Marcella Greco, Guido F. Laube, Hanan M. Fathy, Martin Pohl, Jutta Gellermann, Danko Milosevic, Michelle A. Baum, Shrikant Mane, Richard P. Lifton, Patricia M. Kane, Seth L. Alper, Friedhelm Hildebrandt
Kidney International, March 2020, Elsevier
DOI: 10.1016/j.kint.2019.09.026