Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP542451.RAk3VnWNLYhrhxY9XqdojKYFwpwU9pSlK-D8N48U6qxkQ130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP542451.RAk3VnWNLYhrhxY9XqdojKYFwpwU9pSlK-D8N48U6qxkQ130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP542451.RAk3VnWNLYhrhxY9XqdojKYFwpwU9pSlK-D8N48U6qxkQ130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP542451.RAk3VnWNLYhrhxY9XqdojKYFwpwU9pSlK-D8N48U6qxkQ130_provenance.
- NP542451.RAk3VnWNLYhrhxY9XqdojKYFwpwU9pSlK-D8N48U6qxkQ130_assertion description "[Defective glycosylation of decorin and biglycan, altered collagen structure, and abnormal phenotype of the skin fibroblasts of an Ehlers-Danlos syndrome patient carrying the novel Arg270Cys substitution in galactosyltransferase I (beta4GalT-7).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP542451.RAk3VnWNLYhrhxY9XqdojKYFwpwU9pSlK-D8N48U6qxkQ130_provenance.
- NP542451.RAk3VnWNLYhrhxY9XqdojKYFwpwU9pSlK-D8N48U6qxkQ130_assertion evidence source_evidence_literature NP542451.RAk3VnWNLYhrhxY9XqdojKYFwpwU9pSlK-D8N48U6qxkQ130_provenance.
- NP542451.RAk3VnWNLYhrhxY9XqdojKYFwpwU9pSlK-D8N48U6qxkQ130_assertion SIO_000772 16583246 NP542451.RAk3VnWNLYhrhxY9XqdojKYFwpwU9pSlK-D8N48U6qxkQ130_provenance.
- NP542451.RAk3VnWNLYhrhxY9XqdojKYFwpwU9pSlK-D8N48U6qxkQ130_assertion wasDerivedFrom befree-20140225 NP542451.RAk3VnWNLYhrhxY9XqdojKYFwpwU9pSlK-D8N48U6qxkQ130_provenance.
- NP542451.RAk3VnWNLYhrhxY9XqdojKYFwpwU9pSlK-D8N48U6qxkQ130_assertion wasGeneratedBy ECO_0000203 NP542451.RAk3VnWNLYhrhxY9XqdojKYFwpwU9pSlK-D8N48U6qxkQ130_provenance.
- befree-20140225 importedOn "2014-02-25" NP542451.RAk3VnWNLYhrhxY9XqdojKYFwpwU9pSlK-D8N48U6qxkQ130_provenance.