V-type proton ATPase 116 kDa subunit a 4
Definition:
References:
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[1]. E H Stover, et al. Novel ATP6V1B1 and ATP6V0A4 mutations in autosomal recessive distal renal tubular acidosis with new evidence for hearing loss. J Med Genet. 2002 Nov;39(11):796-803. [Content Brief]
[2]. A N Smith, et al. Mutations in ATP6N1B, encoding a new kidney vacuolar proton pump 116-kD subunit, cause recessive distal renal tubular acidosis with preserved hearing. Nat Genet. 2000 Sep;26(1):71-5. [Content Brief]