Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP975513.RA0eazfpDQim1fncxLIdZildlg51V1dyAJxlSVGXxwnN8130_assertion> ?p ?o ?g. }
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- NP975513.RA0eazfpDQim1fncxLIdZildlg51V1dyAJxlSVGXxwnN8130_assertion type Assertion NP975513.RA0eazfpDQim1fncxLIdZildlg51V1dyAJxlSVGXxwnN8130_head.
- NP975513.RA0eazfpDQim1fncxLIdZildlg51V1dyAJxlSVGXxwnN8130_assertion description "[Patients with mutations in the ATP6V1B1 proton pump subunit develop dRTA and in most of the cases sensorineural hearing loss early in childhood.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP975513.RA0eazfpDQim1fncxLIdZildlg51V1dyAJxlSVGXxwnN8130_provenance.
- NP975513.RA0eazfpDQim1fncxLIdZildlg51V1dyAJxlSVGXxwnN8130_assertion evidence source_evidence_literature NP975513.RA0eazfpDQim1fncxLIdZildlg51V1dyAJxlSVGXxwnN8130_provenance.
- NP975513.RA0eazfpDQim1fncxLIdZildlg51V1dyAJxlSVGXxwnN8130_assertion SIO_000772 22509993 NP975513.RA0eazfpDQim1fncxLIdZildlg51V1dyAJxlSVGXxwnN8130_provenance.
- NP975513.RA0eazfpDQim1fncxLIdZildlg51V1dyAJxlSVGXxwnN8130_assertion wasDerivedFrom befree-2016 NP975513.RA0eazfpDQim1fncxLIdZildlg51V1dyAJxlSVGXxwnN8130_provenance.
- NP975513.RA0eazfpDQim1fncxLIdZildlg51V1dyAJxlSVGXxwnN8130_assertion wasGeneratedBy ECO_0000203 NP975513.RA0eazfpDQim1fncxLIdZildlg51V1dyAJxlSVGXxwnN8130_provenance.