Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP933489.RA16ZPOsDvHtSnsSofjdC1E590oP5ZLog8pkttzKGauvU130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP933489.RA16ZPOsDvHtSnsSofjdC1E590oP5ZLog8pkttzKGauvU130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP933489.RA16ZPOsDvHtSnsSofjdC1E590oP5ZLog8pkttzKGauvU130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP933489.RA16ZPOsDvHtSnsSofjdC1E590oP5ZLog8pkttzKGauvU130_provenance.
- NP933489.RA16ZPOsDvHtSnsSofjdC1E590oP5ZLog8pkttzKGauvU130_assertion description "[We report a child with a severe choreadystonic movement disorder, bilateral periventricular nodular heterotopia (BPNH), and secondary microcephaly based on compound heterozygosity for two new ARFGEF2 mutations (c.2031_2038dup and c.3798_3802del), changing the limited knowledge about the phenotype.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP933489.RA16ZPOsDvHtSnsSofjdC1E590oP5ZLog8pkttzKGauvU130_provenance.
- NP933489.RA16ZPOsDvHtSnsSofjdC1E590oP5ZLog8pkttzKGauvU130_assertion evidence source_evidence_literature NP933489.RA16ZPOsDvHtSnsSofjdC1E590oP5ZLog8pkttzKGauvU130_provenance.
- NP933489.RA16ZPOsDvHtSnsSofjdC1E590oP5ZLog8pkttzKGauvU130_assertion SIO_000772 19384555 NP933489.RA16ZPOsDvHtSnsSofjdC1E590oP5ZLog8pkttzKGauvU130_provenance.
- NP933489.RA16ZPOsDvHtSnsSofjdC1E590oP5ZLog8pkttzKGauvU130_assertion wasDerivedFrom befree-20140225 NP933489.RA16ZPOsDvHtSnsSofjdC1E590oP5ZLog8pkttzKGauvU130_provenance.
- NP933489.RA16ZPOsDvHtSnsSofjdC1E590oP5ZLog8pkttzKGauvU130_assertion wasGeneratedBy ECO_0000203 NP933489.RA16ZPOsDvHtSnsSofjdC1E590oP5ZLog8pkttzKGauvU130_provenance.
- befree-20140225 importedOn "2014-02-25" NP933489.RA16ZPOsDvHtSnsSofjdC1E590oP5ZLog8pkttzKGauvU130_provenance.