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- source_evidence_literature type ECO_0000212 NP1246808.RAXcxbZBURre-UjScDFQcgqyqE4496Dst7An0SG-lIpF4130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP1246808.RAXcxbZBURre-UjScDFQcgqyqE4496Dst7An0SG-lIpF4130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP1246808.RAXcxbZBURre-UjScDFQcgqyqE4496Dst7An0SG-lIpF4130_provenance.
- NP1246808.RAXcxbZBURre-UjScDFQcgqyqE4496Dst7An0SG-lIpF4130_assertion description "[Clinical reanalysis indicated co-ocurrence of two different phenotypes in the same family: Bardet-Biedl syndrome in the individual harboring the BBS1 mutation and non-syndromic arRP in extended family members.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1246808.RAXcxbZBURre-UjScDFQcgqyqE4496Dst7An0SG-lIpF4130_provenance.
- NP1246808.RAXcxbZBURre-UjScDFQcgqyqE4496Dst7An0SG-lIpF4130_assertion evidence source_evidence_literature NP1246808.RAXcxbZBURre-UjScDFQcgqyqE4496Dst7An0SG-lIpF4130_provenance.
- NP1246808.RAXcxbZBURre-UjScDFQcgqyqE4496Dst7An0SG-lIpF4130_assertion SIO_000772 25494902 NP1246808.RAXcxbZBURre-UjScDFQcgqyqE4496Dst7An0SG-lIpF4130_provenance.
- NP1246808.RAXcxbZBURre-UjScDFQcgqyqE4496Dst7An0SG-lIpF4130_assertion wasDerivedFrom befree-2016 NP1246808.RAXcxbZBURre-UjScDFQcgqyqE4496Dst7An0SG-lIpF4130_provenance.
- NP1246808.RAXcxbZBURre-UjScDFQcgqyqE4496Dst7An0SG-lIpF4130_assertion wasGeneratedBy ECO_0000203 NP1246808.RAXcxbZBURre-UjScDFQcgqyqE4496Dst7An0SG-lIpF4130_provenance.
- befree-2016 importedOn "2016-02-19" NP1246808.RAXcxbZBURre-UjScDFQcgqyqE4496Dst7An0SG-lIpF4130_provenance.