Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP1343.RAji4xIjV1qF4sXz-KKYAeevLsKThqMkaWm7TkV3b6xf4130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP1343.RAji4xIjV1qF4sXz-KKYAeevLsKThqMkaWm7TkV3b6xf4130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP1343.RAji4xIjV1qF4sXz-KKYAeevLsKThqMkaWm7TkV3b6xf4130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP1343.RAji4xIjV1qF4sXz-KKYAeevLsKThqMkaWm7TkV3b6xf4130_provenance.
- NP1343.RAji4xIjV1qF4sXz-KKYAeevLsKThqMkaWm7TkV3b6xf4130_assertion description "[De novo and inherited mutations in COL4A2, encoding the type IV collagen I+-2 chain cause porencephaly.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1343.RAji4xIjV1qF4sXz-KKYAeevLsKThqMkaWm7TkV3b6xf4130_provenance.
- NP1343.RAji4xIjV1qF4sXz-KKYAeevLsKThqMkaWm7TkV3b6xf4130_assertion evidence source_evidence_curated NP1343.RAji4xIjV1qF4sXz-KKYAeevLsKThqMkaWm7TkV3b6xf4130_provenance.
- NP1343.RAji4xIjV1qF4sXz-KKYAeevLsKThqMkaWm7TkV3b6xf4130_assertion SIO_000772 22209246 NP1343.RAji4xIjV1qF4sXz-KKYAeevLsKThqMkaWm7TkV3b6xf4130_provenance.
- NP1343.RAji4xIjV1qF4sXz-KKYAeevLsKThqMkaWm7TkV3b6xf4130_assertion wasDerivedFrom uniprot-20150221 NP1343.RAji4xIjV1qF4sXz-KKYAeevLsKThqMkaWm7TkV3b6xf4130_provenance.
- NP1343.RAji4xIjV1qF4sXz-KKYAeevLsKThqMkaWm7TkV3b6xf4130_assertion wasGeneratedBy ECO_0000218 NP1343.RAji4xIjV1qF4sXz-KKYAeevLsKThqMkaWm7TkV3b6xf4130_provenance.
- uniprot-20150221 importedOn "2015-02-21" NP1343.RAji4xIjV1qF4sXz-KKYAeevLsKThqMkaWm7TkV3b6xf4130_provenance.