Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP478477.RAR6W0lLDaNu4rXSDB6WH2sM78wyiQ_zfE6QiVRO1bIHM130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP478477.RAR6W0lLDaNu4rXSDB6WH2sM78wyiQ_zfE6QiVRO1bIHM130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP478477.RAR6W0lLDaNu4rXSDB6WH2sM78wyiQ_zfE6QiVRO1bIHM130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP478477.RAR6W0lLDaNu4rXSDB6WH2sM78wyiQ_zfE6QiVRO1bIHM130_provenance.
- NP478477.RAR6W0lLDaNu4rXSDB6WH2sM78wyiQ_zfE6QiVRO1bIHM130_assertion description "[A de novo 4.4-Mb microdeletion in 2p24.3 ? p24.2 in a girl with bilateral hearing impairment, microcephaly, digit abnormalities and Feingold syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP478477.RAR6W0lLDaNu4rXSDB6WH2sM78wyiQ_zfE6QiVRO1bIHM130_provenance.
- NP478477.RAR6W0lLDaNu4rXSDB6WH2sM78wyiQ_zfE6QiVRO1bIHM130_assertion evidence source_evidence_literature NP478477.RAR6W0lLDaNu4rXSDB6WH2sM78wyiQ_zfE6QiVRO1bIHM130_provenance.
- NP478477.RAR6W0lLDaNu4rXSDB6WH2sM78wyiQ_zfE6QiVRO1bIHM130_assertion SIO_000772 22842076 NP478477.RAR6W0lLDaNu4rXSDB6WH2sM78wyiQ_zfE6QiVRO1bIHM130_provenance.
- NP478477.RAR6W0lLDaNu4rXSDB6WH2sM78wyiQ_zfE6QiVRO1bIHM130_assertion wasDerivedFrom befree-20140225 NP478477.RAR6W0lLDaNu4rXSDB6WH2sM78wyiQ_zfE6QiVRO1bIHM130_provenance.
- NP478477.RAR6W0lLDaNu4rXSDB6WH2sM78wyiQ_zfE6QiVRO1bIHM130_assertion wasGeneratedBy ECO_0000203 NP478477.RAR6W0lLDaNu4rXSDB6WH2sM78wyiQ_zfE6QiVRO1bIHM130_provenance.
- befree-20140225 importedOn "2014-02-25" NP478477.RAR6W0lLDaNu4rXSDB6WH2sM78wyiQ_zfE6QiVRO1bIHM130_provenance.