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- source_evidence_literature type ECO_0000212 NP1125194.RAXZvuhcH8f43B6cSeZVE2fBNicLxVbq5-Z2poRmDvxcc130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP1125194.RAXZvuhcH8f43B6cSeZVE2fBNicLxVbq5-Z2poRmDvxcc130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP1125194.RAXZvuhcH8f43B6cSeZVE2fBNicLxVbq5-Z2poRmDvxcc130_provenance.
- NP1125194.RAXZvuhcH8f43B6cSeZVE2fBNicLxVbq5-Z2poRmDvxcc130_assertion description "[We identified the novel heterozygous c.1165dupA mutation in exon 7 of TGFB2 in three members of a family, a 51-year-old male, his brother and nephew with aortic aneurysms, cervical arterial tortuosity and/or skeletal abnormalities as well as craniofacial dysmorphisms.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1125194.RAXZvuhcH8f43B6cSeZVE2fBNicLxVbq5-Z2poRmDvxcc130_provenance.
- NP1125194.RAXZvuhcH8f43B6cSeZVE2fBNicLxVbq5-Z2poRmDvxcc130_assertion evidence source_evidence_literature NP1125194.RAXZvuhcH8f43B6cSeZVE2fBNicLxVbq5-Z2poRmDvxcc130_provenance.
- NP1125194.RAXZvuhcH8f43B6cSeZVE2fBNicLxVbq5-Z2poRmDvxcc130_assertion SIO_000772 24193348 NP1125194.RAXZvuhcH8f43B6cSeZVE2fBNicLxVbq5-Z2poRmDvxcc130_provenance.
- NP1125194.RAXZvuhcH8f43B6cSeZVE2fBNicLxVbq5-Z2poRmDvxcc130_assertion wasDerivedFrom befree-2016 NP1125194.RAXZvuhcH8f43B6cSeZVE2fBNicLxVbq5-Z2poRmDvxcc130_provenance.
- NP1125194.RAXZvuhcH8f43B6cSeZVE2fBNicLxVbq5-Z2poRmDvxcc130_assertion wasGeneratedBy ECO_0000203 NP1125194.RAXZvuhcH8f43B6cSeZVE2fBNicLxVbq5-Z2poRmDvxcc130_provenance.
- befree-2016 importedOn "2016-02-19" NP1125194.RAXZvuhcH8f43B6cSeZVE2fBNicLxVbq5-Z2poRmDvxcc130_provenance.