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- source_evidence_literature type ECO_0000212 NP1126827.RA1oFGrwebeGXXfkQf_HDyNeMccdBtV38S7TIMkp3LguQ130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP1126827.RA1oFGrwebeGXXfkQf_HDyNeMccdBtV38S7TIMkp3LguQ130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP1126827.RA1oFGrwebeGXXfkQf_HDyNeMccdBtV38S7TIMkp3LguQ130_provenance.
- NP1126827.RA1oFGrwebeGXXfkQf_HDyNeMccdBtV38S7TIMkp3LguQ130_assertion description "[Mutations in FBN1, ADAMTS10, or ADAMTS17 cause Weill-Marchesani syndrome by disrupting the microfibrillar environment, while geleophysic dysplasia is associated with enhanced TGF-? signaling mediated through mutations in FBN1 or ADAMTSL2.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1126827.RA1oFGrwebeGXXfkQf_HDyNeMccdBtV38S7TIMkp3LguQ130_provenance.
- NP1126827.RA1oFGrwebeGXXfkQf_HDyNeMccdBtV38S7TIMkp3LguQ130_assertion evidence source_evidence_literature NP1126827.RA1oFGrwebeGXXfkQf_HDyNeMccdBtV38S7TIMkp3LguQ130_provenance.
- NP1126827.RA1oFGrwebeGXXfkQf_HDyNeMccdBtV38S7TIMkp3LguQ130_assertion SIO_000772 24214363 NP1126827.RA1oFGrwebeGXXfkQf_HDyNeMccdBtV38S7TIMkp3LguQ130_provenance.
- NP1126827.RA1oFGrwebeGXXfkQf_HDyNeMccdBtV38S7TIMkp3LguQ130_assertion wasDerivedFrom befree-2016 NP1126827.RA1oFGrwebeGXXfkQf_HDyNeMccdBtV38S7TIMkp3LguQ130_provenance.
- NP1126827.RA1oFGrwebeGXXfkQf_HDyNeMccdBtV38S7TIMkp3LguQ130_assertion wasGeneratedBy ECO_0000203 NP1126827.RA1oFGrwebeGXXfkQf_HDyNeMccdBtV38S7TIMkp3LguQ130_provenance.
- befree-2016 importedOn "2016-02-19" NP1126827.RA1oFGrwebeGXXfkQf_HDyNeMccdBtV38S7TIMkp3LguQ130_provenance.