Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP159255.RAC8cNVmCFKX0i7P8ZZ435Nu_rzRcYBmbuuK92OW7wit4130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP159255.RAC8cNVmCFKX0i7P8ZZ435Nu_rzRcYBmbuuK92OW7wit4130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP159255.RAC8cNVmCFKX0i7P8ZZ435Nu_rzRcYBmbuuK92OW7wit4130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP159255.RAC8cNVmCFKX0i7P8ZZ435Nu_rzRcYBmbuuK92OW7wit4130_provenance.
- NP159255.RAC8cNVmCFKX0i7P8ZZ435Nu_rzRcYBmbuuK92OW7wit4130_assertion description "[We have performed the first prenatal assessment of clinical phenotype in a family affected by Ehlers-Danlos syndrome type VI (EDS VI), an inherited collagen disorder, by screening the fetal DNA for mutations in the lysyl hydroxylase (LH) gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP159255.RAC8cNVmCFKX0i7P8ZZ435Nu_rzRcYBmbuuK92OW7wit4130_provenance.
- NP159255.RAC8cNVmCFKX0i7P8ZZ435Nu_rzRcYBmbuuK92OW7wit4130_assertion evidence source_evidence_literature NP159255.RAC8cNVmCFKX0i7P8ZZ435Nu_rzRcYBmbuuK92OW7wit4130_provenance.
- NP159255.RAC8cNVmCFKX0i7P8ZZ435Nu_rzRcYBmbuuK92OW7wit4130_assertion SIO_000772 9893157 NP159255.RAC8cNVmCFKX0i7P8ZZ435Nu_rzRcYBmbuuK92OW7wit4130_provenance.
- NP159255.RAC8cNVmCFKX0i7P8ZZ435Nu_rzRcYBmbuuK92OW7wit4130_assertion wasDerivedFrom befree-20140225 NP159255.RAC8cNVmCFKX0i7P8ZZ435Nu_rzRcYBmbuuK92OW7wit4130_provenance.
- NP159255.RAC8cNVmCFKX0i7P8ZZ435Nu_rzRcYBmbuuK92OW7wit4130_assertion wasGeneratedBy ECO_0000203 NP159255.RAC8cNVmCFKX0i7P8ZZ435Nu_rzRcYBmbuuK92OW7wit4130_provenance.
- befree-20140225 importedOn "2014-02-25" NP159255.RAC8cNVmCFKX0i7P8ZZ435Nu_rzRcYBmbuuK92OW7wit4130_provenance.