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- source_evidence_literature type ECO_0000212 NP960743.RAR3eKWpA2z1IMmN91PPnZcdLNAz2WFiraYzKHsJh95X8130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP960743.RAR3eKWpA2z1IMmN91PPnZcdLNAz2WFiraYzKHsJh95X8130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP960743.RAR3eKWpA2z1IMmN91PPnZcdLNAz2WFiraYzKHsJh95X8130_provenance.
- NP960743.RAR3eKWpA2z1IMmN91PPnZcdLNAz2WFiraYzKHsJh95X8130_assertion description "[In our previous study, we have identified a homozygous TMEM67 mutation in a Chinese family exhibiting clinical characteristics of MKS3, which provided a ground for further PGD procedure.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP960743.RAR3eKWpA2z1IMmN91PPnZcdLNAz2WFiraYzKHsJh95X8130_provenance.
- NP960743.RAR3eKWpA2z1IMmN91PPnZcdLNAz2WFiraYzKHsJh95X8130_assertion evidence source_evidence_literature NP960743.RAR3eKWpA2z1IMmN91PPnZcdLNAz2WFiraYzKHsJh95X8130_provenance.
- NP960743.RAR3eKWpA2z1IMmN91PPnZcdLNAz2WFiraYzKHsJh95X8130_assertion SIO_000772 24039893 NP960743.RAR3eKWpA2z1IMmN91PPnZcdLNAz2WFiraYzKHsJh95X8130_provenance.
- NP960743.RAR3eKWpA2z1IMmN91PPnZcdLNAz2WFiraYzKHsJh95X8130_assertion wasDerivedFrom befree-20150227 NP960743.RAR3eKWpA2z1IMmN91PPnZcdLNAz2WFiraYzKHsJh95X8130_provenance.
- NP960743.RAR3eKWpA2z1IMmN91PPnZcdLNAz2WFiraYzKHsJh95X8130_assertion wasGeneratedBy ECO_0000203 NP960743.RAR3eKWpA2z1IMmN91PPnZcdLNAz2WFiraYzKHsJh95X8130_provenance.
- befree-20150227 importedOn "2015-02-27" NP960743.RAR3eKWpA2z1IMmN91PPnZcdLNAz2WFiraYzKHsJh95X8130_provenance.