Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP648.RAtvscqFNRGuMKaGcqMqOW79Egq0f0qI-0f8BPyBcboeg130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP648.RAtvscqFNRGuMKaGcqMqOW79Egq0f0qI-0f8BPyBcboeg130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP648.RAtvscqFNRGuMKaGcqMqOW79Egq0f0qI-0f8BPyBcboeg130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP648.RAtvscqFNRGuMKaGcqMqOW79Egq0f0qI-0f8BPyBcboeg130_provenance.
- NP648.RAtvscqFNRGuMKaGcqMqOW79Egq0f0qI-0f8BPyBcboeg130_assertion description "[Mutational analyses of AVPR2 gene in three Japanese families with X-linked nephrogenic diabetes insipidus: two recurrent mutations, R137H and deltaV278, caused by the hypermutability at CpG dinucleotides.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP648.RAtvscqFNRGuMKaGcqMqOW79Egq0f0qI-0f8BPyBcboeg130_provenance.
- NP648.RAtvscqFNRGuMKaGcqMqOW79Egq0f0qI-0f8BPyBcboeg130_assertion evidence source_evidence_curated NP648.RAtvscqFNRGuMKaGcqMqOW79Egq0f0qI-0f8BPyBcboeg130_provenance.
- NP648.RAtvscqFNRGuMKaGcqMqOW79Egq0f0qI-0f8BPyBcboeg130_assertion SIO_000772 9452109 NP648.RAtvscqFNRGuMKaGcqMqOW79Egq0f0qI-0f8BPyBcboeg130_provenance.
- NP648.RAtvscqFNRGuMKaGcqMqOW79Egq0f0qI-0f8BPyBcboeg130_assertion wasDerivedFrom uniprot-20130724 NP648.RAtvscqFNRGuMKaGcqMqOW79Egq0f0qI-0f8BPyBcboeg130_provenance.
- NP648.RAtvscqFNRGuMKaGcqMqOW79Egq0f0qI-0f8BPyBcboeg130_assertion wasGeneratedBy ECO_0000218 NP648.RAtvscqFNRGuMKaGcqMqOW79Egq0f0qI-0f8BPyBcboeg130_provenance.
- uniprot-20130724 importedOn "2013-07-24" NP648.RAtvscqFNRGuMKaGcqMqOW79Egq0f0qI-0f8BPyBcboeg130_provenance.