Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP7401.RAQfumaAiQ2C4v3HV3qEGLLswakj5Sa9CbzzQ58eO-YNU130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP7401.RAQfumaAiQ2C4v3HV3qEGLLswakj5Sa9CbzzQ58eO-YNU130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP7401.RAQfumaAiQ2C4v3HV3qEGLLswakj5Sa9CbzzQ58eO-YNU130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP7401.RAQfumaAiQ2C4v3HV3qEGLLswakj5Sa9CbzzQ58eO-YNU130_provenance.
- NP7401.RAQfumaAiQ2C4v3HV3qEGLLswakj5Sa9CbzzQ58eO-YNU130_assertion description "[Gain-of-function mutations in the mechanically activated ion channel PIEZO2 cause a subtype of Distal Arthrogryposis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP7401.RAQfumaAiQ2C4v3HV3qEGLLswakj5Sa9CbzzQ58eO-YNU130_provenance.
- NP7401.RAQfumaAiQ2C4v3HV3qEGLLswakj5Sa9CbzzQ58eO-YNU130_assertion evidence source_evidence_curated NP7401.RAQfumaAiQ2C4v3HV3qEGLLswakj5Sa9CbzzQ58eO-YNU130_provenance.
- NP7401.RAQfumaAiQ2C4v3HV3qEGLLswakj5Sa9CbzzQ58eO-YNU130_assertion SIO_000772 23487782 NP7401.RAQfumaAiQ2C4v3HV3qEGLLswakj5Sa9CbzzQ58eO-YNU130_provenance.
- NP7401.RAQfumaAiQ2C4v3HV3qEGLLswakj5Sa9CbzzQ58eO-YNU130_assertion wasDerivedFrom uniprot-2016 NP7401.RAQfumaAiQ2C4v3HV3qEGLLswakj5Sa9CbzzQ58eO-YNU130_provenance.
- NP7401.RAQfumaAiQ2C4v3HV3qEGLLswakj5Sa9CbzzQ58eO-YNU130_assertion wasGeneratedBy ECO_0000218 NP7401.RAQfumaAiQ2C4v3HV3qEGLLswakj5Sa9CbzzQ58eO-YNU130_provenance.
- uniprot-2016 importedOn "2016-01-25" NP7401.RAQfumaAiQ2C4v3HV3qEGLLswakj5Sa9CbzzQ58eO-YNU130_provenance.