Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP6903.RA9dbJKdpeJHyZyaXYkW8w9e93hx9q-RXAUrgYJt069bI130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP6903.RA9dbJKdpeJHyZyaXYkW8w9e93hx9q-RXAUrgYJt069bI130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP6903.RA9dbJKdpeJHyZyaXYkW8w9e93hx9q-RXAUrgYJt069bI130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP6903.RA9dbJKdpeJHyZyaXYkW8w9e93hx9q-RXAUrgYJt069bI130_provenance.
- NP6903.RA9dbJKdpeJHyZyaXYkW8w9e93hx9q-RXAUrgYJt069bI130_assertion description "[De novo and inherited mutations in COL4A2, encoding the type IV collagen ?2 chain cause porencephaly.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6903.RA9dbJKdpeJHyZyaXYkW8w9e93hx9q-RXAUrgYJt069bI130_provenance.
- NP6903.RA9dbJKdpeJHyZyaXYkW8w9e93hx9q-RXAUrgYJt069bI130_assertion evidence source_evidence_curated NP6903.RA9dbJKdpeJHyZyaXYkW8w9e93hx9q-RXAUrgYJt069bI130_provenance.
- NP6903.RA9dbJKdpeJHyZyaXYkW8w9e93hx9q-RXAUrgYJt069bI130_assertion SIO_000772 22209246 NP6903.RA9dbJKdpeJHyZyaXYkW8w9e93hx9q-RXAUrgYJt069bI130_provenance.
- NP6903.RA9dbJKdpeJHyZyaXYkW8w9e93hx9q-RXAUrgYJt069bI130_assertion wasDerivedFrom uniprot-2016 NP6903.RA9dbJKdpeJHyZyaXYkW8w9e93hx9q-RXAUrgYJt069bI130_provenance.
- NP6903.RA9dbJKdpeJHyZyaXYkW8w9e93hx9q-RXAUrgYJt069bI130_assertion wasGeneratedBy ECO_0000218 NP6903.RA9dbJKdpeJHyZyaXYkW8w9e93hx9q-RXAUrgYJt069bI130_provenance.
- uniprot-2016 importedOn "2016-01-25" NP6903.RA9dbJKdpeJHyZyaXYkW8w9e93hx9q-RXAUrgYJt069bI130_provenance.