Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP6976.RAgH3KU1OQ-Wn1n2Sl2shwyjkuJJtMjbEagn6oRPuI5pk130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP6976.RAgH3KU1OQ-Wn1n2Sl2shwyjkuJJtMjbEagn6oRPuI5pk130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP6976.RAgH3KU1OQ-Wn1n2Sl2shwyjkuJJtMjbEagn6oRPuI5pk130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP6976.RAgH3KU1OQ-Wn1n2Sl2shwyjkuJJtMjbEagn6oRPuI5pk130_provenance.
- NP6976.RAgH3KU1OQ-Wn1n2Sl2shwyjkuJJtMjbEagn6oRPuI5pk130_assertion description "[De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6976.RAgH3KU1OQ-Wn1n2Sl2shwyjkuJJtMjbEagn6oRPuI5pk130_provenance.
- NP6976.RAgH3KU1OQ-Wn1n2Sl2shwyjkuJJtMjbEagn6oRPuI5pk130_assertion evidence source_evidence_curated NP6976.RAgH3KU1OQ-Wn1n2Sl2shwyjkuJJtMjbEagn6oRPuI5pk130_provenance.
- NP6976.RAgH3KU1OQ-Wn1n2Sl2shwyjkuJJtMjbEagn6oRPuI5pk130_assertion SIO_000772 22366783 NP6976.RAgH3KU1OQ-Wn1n2Sl2shwyjkuJJtMjbEagn6oRPuI5pk130_provenance.
- NP6976.RAgH3KU1OQ-Wn1n2Sl2shwyjkuJJtMjbEagn6oRPuI5pk130_assertion wasDerivedFrom uniprot-2016 NP6976.RAgH3KU1OQ-Wn1n2Sl2shwyjkuJJtMjbEagn6oRPuI5pk130_provenance.
- NP6976.RAgH3KU1OQ-Wn1n2Sl2shwyjkuJJtMjbEagn6oRPuI5pk130_assertion wasGeneratedBy ECO_0000218 NP6976.RAgH3KU1OQ-Wn1n2Sl2shwyjkuJJtMjbEagn6oRPuI5pk130_provenance.
- uniprot-2016 importedOn "2016-01-25" NP6976.RAgH3KU1OQ-Wn1n2Sl2shwyjkuJJtMjbEagn6oRPuI5pk130_provenance.