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 BaumShrikant Mane, Richard P Lifton, Patricia M Kane, Seth L Alper, Friedhelm Hildebrandt

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Medicine & Life Sciences