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Mohebbi, N; Vargas-Poussou, R; Hegemann, S; Schuknecht, B; Kistler, A; Wüthrich, R; Wagner, C (2013). Homozygous and compound heterozygous mutations in the ATP6V1B1 gene in patients with renal tubular acidosis and sensorineural hearing loss. Clinical Genetics, 83(3):274-278.