eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | osteopetrosis |
| Comorbidity | C0018552|hamartomas |
| Sentences | 2 |
| PubMedID- 24159188 | A missense mutation accelerating the gating of the lysosomal cl-/h+-exchanger clc-7/ostm1 causes osteopetrosis with gingival hamartomas in cattle. |
| PubMedID- 26042048 | Recently, an accelerated gating kinetics of the lysosomal cl/h-exchanger clc-7/ostm1 has been brought up as the reason for osteopetrosis with gingival hamartomas in cattle (sartelet et al., 2014). |
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