Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP14900.RAbqd6n8pNKJtmYvj5K_FiGscX7GJlXM05lRr4QnXFTtA130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP14900.RAbqd6n8pNKJtmYvj5K_FiGscX7GJlXM05lRr4QnXFTtA130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP14900.RAbqd6n8pNKJtmYvj5K_FiGscX7GJlXM05lRr4QnXFTtA130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP14900.RAbqd6n8pNKJtmYvj5K_FiGscX7GJlXM05lRr4QnXFTtA130_provenance.
- ctd_human-20150221 importedOn "2015-02-21" NP14900.RAbqd6n8pNKJtmYvj5K_FiGscX7GJlXM05lRr4QnXFTtA130_provenance.
- NP14900.RAbqd6n8pNKJtmYvj5K_FiGscX7GJlXM05lRr4QnXFTtA130_assertion wasGeneratedBy ECO_0000218 NP14900.RAbqd6n8pNKJtmYvj5K_FiGscX7GJlXM05lRr4QnXFTtA130_provenance.
- NP14900.RAbqd6n8pNKJtmYvj5K_FiGscX7GJlXM05lRr4QnXFTtA130_assertion wasDerivedFrom ctd_human-20150221 NP14900.RAbqd6n8pNKJtmYvj5K_FiGscX7GJlXM05lRr4QnXFTtA130_provenance.
- NP14900.RAbqd6n8pNKJtmYvj5K_FiGscX7GJlXM05lRr4QnXFTtA130_assertion SIO_000772 12612583 NP14900.RAbqd6n8pNKJtmYvj5K_FiGscX7GJlXM05lRr4QnXFTtA130_provenance.
- NP14900.RAbqd6n8pNKJtmYvj5K_FiGscX7GJlXM05lRr4QnXFTtA130_assertion evidence source_evidence_curated NP14900.RAbqd6n8pNKJtmYvj5K_FiGscX7GJlXM05lRr4QnXFTtA130_provenance.
- NP14900.RAbqd6n8pNKJtmYvj5K_FiGscX7GJlXM05lRr4QnXFTtA130_assertion description "[Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP14900.RAbqd6n8pNKJtmYvj5K_FiGscX7GJlXM05lRr4QnXFTtA130_provenance.