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Smith, A.N., Skaug, J., Choate, K.A., Nayir, A., Bakka- loglu, A., Ozen, S., Hulton, S.A., Sanjad, S.A., Al-Sabban, E.A., Lifton, R.P., Scherer, S.W. and Karet, F.E. (2000) Mutations in ATP6N1B, encoding a new kidney vacuolar proton pump 116-kD subunit, cause recessive distal renal tubular acidosis with preserved hearing. Nature Genetics, 26, 71-75. http://dx.doi.org/10.1038/82492
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