Pseudouridylation defect due to DKC1 and NOP10 mutations causes nephrotic syndrome with cataracts, hearing impairment, and enterocolitis
Balogh, E; Chandler, JC; Varga, M; Tahoun, M; Menyhard, DK; Schay, G; Goncalves, T; Hamar, R; Legradi, R; Szekeres, A;... (2020-06-30)