Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP22046.RAxH6j1iIwN6TS5Z2GE-z9q_f-YMnRhx00wRb8icbzsrA130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP22046.RAxH6j1iIwN6TS5Z2GE-z9q_f-YMnRhx00wRb8icbzsrA130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP22046.RAxH6j1iIwN6TS5Z2GE-z9q_f-YMnRhx00wRb8icbzsrA130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP22046.RAxH6j1iIwN6TS5Z2GE-z9q_f-YMnRhx00wRb8icbzsrA130_provenance.
- NP22046.RAxH6j1iIwN6TS5Z2GE-z9q_f-YMnRhx00wRb8icbzsrA130_assertion description "[Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP22046.RAxH6j1iIwN6TS5Z2GE-z9q_f-YMnRhx00wRb8icbzsrA130_provenance.
- NP22046.RAxH6j1iIwN6TS5Z2GE-z9q_f-YMnRhx00wRb8icbzsrA130_assertion evidence source_evidence_curated NP22046.RAxH6j1iIwN6TS5Z2GE-z9q_f-YMnRhx00wRb8icbzsrA130_provenance.
- NP22046.RAxH6j1iIwN6TS5Z2GE-z9q_f-YMnRhx00wRb8icbzsrA130_assertion SIO_000772 16439621 NP22046.RAxH6j1iIwN6TS5Z2GE-z9q_f-YMnRhx00wRb8icbzsrA130_provenance.
- NP22046.RAxH6j1iIwN6TS5Z2GE-z9q_f-YMnRhx00wRb8icbzsrA130_assertion wasDerivedFrom ctd_human-20130708 NP22046.RAxH6j1iIwN6TS5Z2GE-z9q_f-YMnRhx00wRb8icbzsrA130_provenance.
- NP22046.RAxH6j1iIwN6TS5Z2GE-z9q_f-YMnRhx00wRb8icbzsrA130_assertion wasGeneratedBy ECO_0000218 NP22046.RAxH6j1iIwN6TS5Z2GE-z9q_f-YMnRhx00wRb8icbzsrA130_provenance.
- ctd_human-20130708 importedOn "2013-07-24" NP22046.RAxH6j1iIwN6TS5Z2GE-z9q_f-YMnRhx00wRb8icbzsrA130_provenance.