Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP1244643.RAX8eJM_CQe_NJBKdn1F6Ig91aGKBUHv0tZileFHb-T44130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP1244643.RAX8eJM_CQe_NJBKdn1F6Ig91aGKBUHv0tZileFHb-T44130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP1244643.RAX8eJM_CQe_NJBKdn1F6Ig91aGKBUHv0tZileFHb-T44130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP1244643.RAX8eJM_CQe_NJBKdn1F6Ig91aGKBUHv0tZileFHb-T44130_provenance.
- NP1244643.RAX8eJM_CQe_NJBKdn1F6Ig91aGKBUHv0tZileFHb-T44130_assertion description "[Taken together, our data suggest that rare deleterious CHD7 alleles contribute to the mutational burden of patients with both KS and normosmic forms of IGD in the absence of full CHARGE syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1244643.RAX8eJM_CQe_NJBKdn1F6Ig91aGKBUHv0tZileFHb-T44130_provenance.
- NP1244643.RAX8eJM_CQe_NJBKdn1F6Ig91aGKBUHv0tZileFHb-T44130_assertion evidence source_evidence_literature NP1244643.RAX8eJM_CQe_NJBKdn1F6Ig91aGKBUHv0tZileFHb-T44130_provenance.
- NP1244643.RAX8eJM_CQe_NJBKdn1F6Ig91aGKBUHv0tZileFHb-T44130_assertion SIO_000772 25472840 NP1244643.RAX8eJM_CQe_NJBKdn1F6Ig91aGKBUHv0tZileFHb-T44130_provenance.
- NP1244643.RAX8eJM_CQe_NJBKdn1F6Ig91aGKBUHv0tZileFHb-T44130_assertion wasDerivedFrom befree-2016 NP1244643.RAX8eJM_CQe_NJBKdn1F6Ig91aGKBUHv0tZileFHb-T44130_provenance.
- NP1244643.RAX8eJM_CQe_NJBKdn1F6Ig91aGKBUHv0tZileFHb-T44130_assertion wasGeneratedBy ECO_0000203 NP1244643.RAX8eJM_CQe_NJBKdn1F6Ig91aGKBUHv0tZileFHb-T44130_provenance.
- befree-2016 importedOn "2016-02-19" NP1244643.RAX8eJM_CQe_NJBKdn1F6Ig91aGKBUHv0tZileFHb-T44130_provenance.