Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP981014.RAK1Q84FwN-81v7htD9XCizIhBayLkgi6drgPFAo1ELoM130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP981014.RAK1Q84FwN-81v7htD9XCizIhBayLkgi6drgPFAo1ELoM130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP981014.RAK1Q84FwN-81v7htD9XCizIhBayLkgi6drgPFAo1ELoM130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP981014.RAK1Q84FwN-81v7htD9XCizIhBayLkgi6drgPFAo1ELoM130_provenance.
- NP981014.RAK1Q84FwN-81v7htD9XCizIhBayLkgi6drgPFAo1ELoM130_assertion description "[We hypothesize that the urogenital and anorectal malformations in the patient result from one or several mechanisms including disruption of the genes 182-FIP and LHFPL5, altered expression of the genes flanking the translocation breakpoints and, a gain of function mechanism mediated by the 182-FIP-LHFPL5 fusion transcript.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP981014.RAK1Q84FwN-81v7htD9XCizIhBayLkgi6drgPFAo1ELoM130_provenance.
- NP981014.RAK1Q84FwN-81v7htD9XCizIhBayLkgi6drgPFAo1ELoM130_assertion evidence source_evidence_literature NP981014.RAK1Q84FwN-81v7htD9XCizIhBayLkgi6drgPFAo1ELoM130_provenance.
- NP981014.RAK1Q84FwN-81v7htD9XCizIhBayLkgi6drgPFAo1ELoM130_assertion SIO_000772 16395596 NP981014.RAK1Q84FwN-81v7htD9XCizIhBayLkgi6drgPFAo1ELoM130_provenance.
- NP981014.RAK1Q84FwN-81v7htD9XCizIhBayLkgi6drgPFAo1ELoM130_assertion wasDerivedFrom befree-20150227 NP981014.RAK1Q84FwN-81v7htD9XCizIhBayLkgi6drgPFAo1ELoM130_provenance.
- NP981014.RAK1Q84FwN-81v7htD9XCizIhBayLkgi6drgPFAo1ELoM130_assertion wasGeneratedBy ECO_0000203 NP981014.RAK1Q84FwN-81v7htD9XCizIhBayLkgi6drgPFAo1ELoM130_provenance.
- befree-20150227 importedOn "2015-02-27" NP981014.RAK1Q84FwN-81v7htD9XCizIhBayLkgi6drgPFAo1ELoM130_provenance.