Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP458318.RAmSjpzjCK1eJufsKPgrdm9TMpt3NcpzX_3gzbeDJ-9dE130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP458318.RAmSjpzjCK1eJufsKPgrdm9TMpt3NcpzX_3gzbeDJ-9dE130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP458318.RAmSjpzjCK1eJufsKPgrdm9TMpt3NcpzX_3gzbeDJ-9dE130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP458318.RAmSjpzjCK1eJufsKPgrdm9TMpt3NcpzX_3gzbeDJ-9dE130_provenance.
- NP458318.RAmSjpzjCK1eJufsKPgrdm9TMpt3NcpzX_3gzbeDJ-9dE130_assertion description "[A novel splice-acceptor site mutation in CDH3 gene in a consanguineous family exhibiting hypotrichosis with juvenile macular dystrophy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP458318.RAmSjpzjCK1eJufsKPgrdm9TMpt3NcpzX_3gzbeDJ-9dE130_provenance.
- NP458318.RAmSjpzjCK1eJufsKPgrdm9TMpt3NcpzX_3gzbeDJ-9dE130_assertion evidence source_evidence_literature NP458318.RAmSjpzjCK1eJufsKPgrdm9TMpt3NcpzX_3gzbeDJ-9dE130_provenance.
- NP458318.RAmSjpzjCK1eJufsKPgrdm9TMpt3NcpzX_3gzbeDJ-9dE130_assertion SIO_000772 20140736 NP458318.RAmSjpzjCK1eJufsKPgrdm9TMpt3NcpzX_3gzbeDJ-9dE130_provenance.
- NP458318.RAmSjpzjCK1eJufsKPgrdm9TMpt3NcpzX_3gzbeDJ-9dE130_assertion wasDerivedFrom befree-20140225 NP458318.RAmSjpzjCK1eJufsKPgrdm9TMpt3NcpzX_3gzbeDJ-9dE130_provenance.
- NP458318.RAmSjpzjCK1eJufsKPgrdm9TMpt3NcpzX_3gzbeDJ-9dE130_assertion wasGeneratedBy ECO_0000203 NP458318.RAmSjpzjCK1eJufsKPgrdm9TMpt3NcpzX_3gzbeDJ-9dE130_provenance.
- befree-20140225 importedOn "2014-02-25" NP458318.RAmSjpzjCK1eJufsKPgrdm9TMpt3NcpzX_3gzbeDJ-9dE130_provenance.