Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP715299.RAw3YquG2cpXUXLUxmzzmCOmdXL5sU2eZqZWBAIT8qNhk130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP715299.RAw3YquG2cpXUXLUxmzzmCOmdXL5sU2eZqZWBAIT8qNhk130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP715299.RAw3YquG2cpXUXLUxmzzmCOmdXL5sU2eZqZWBAIT8qNhk130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP715299.RAw3YquG2cpXUXLUxmzzmCOmdXL5sU2eZqZWBAIT8qNhk130_provenance.
- NP715299.RAw3YquG2cpXUXLUxmzzmCOmdXL5sU2eZqZWBAIT8qNhk130_assertion description "[We have identified a homozygous missense mutation in the RAD51C gene in a consanguineous family with multiple severe congenital abnormalities characteristic of FA.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP715299.RAw3YquG2cpXUXLUxmzzmCOmdXL5sU2eZqZWBAIT8qNhk130_provenance.
- NP715299.RAw3YquG2cpXUXLUxmzzmCOmdXL5sU2eZqZWBAIT8qNhk130_assertion evidence source_evidence_literature NP715299.RAw3YquG2cpXUXLUxmzzmCOmdXL5sU2eZqZWBAIT8qNhk130_provenance.
- NP715299.RAw3YquG2cpXUXLUxmzzmCOmdXL5sU2eZqZWBAIT8qNhk130_assertion SIO_000772 20400963 NP715299.RAw3YquG2cpXUXLUxmzzmCOmdXL5sU2eZqZWBAIT8qNhk130_provenance.
- NP715299.RAw3YquG2cpXUXLUxmzzmCOmdXL5sU2eZqZWBAIT8qNhk130_assertion wasDerivedFrom befree-20140225 NP715299.RAw3YquG2cpXUXLUxmzzmCOmdXL5sU2eZqZWBAIT8qNhk130_provenance.
- NP715299.RAw3YquG2cpXUXLUxmzzmCOmdXL5sU2eZqZWBAIT8qNhk130_assertion wasGeneratedBy ECO_0000203 NP715299.RAw3YquG2cpXUXLUxmzzmCOmdXL5sU2eZqZWBAIT8qNhk130_provenance.
- befree-20140225 importedOn "2014-02-25" NP715299.RAw3YquG2cpXUXLUxmzzmCOmdXL5sU2eZqZWBAIT8qNhk130_provenance.