PedAM
Pediatric Disease Annotations & Medicines
| Disease | renal tubular acidosis |
| Phenotype | C0155550|neural deafness |
| Sentences | 1 |
| PubMedID- 25517796 | Mutations in exons 3 and 7 resulting in truncated expression of human atp6v1b1 gene showing structural variations contributing to poor substrate binding-causative reason for distal renal tubular acidosis with sensorineural deafness. |
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