Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP319394.RAo9t8NBkX0AYWDgT7DqL9HcILHHSsrTk0bOCAHS8qxAg130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP319394.RAo9t8NBkX0AYWDgT7DqL9HcILHHSsrTk0bOCAHS8qxAg130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP319394.RAo9t8NBkX0AYWDgT7DqL9HcILHHSsrTk0bOCAHS8qxAg130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP319394.RAo9t8NBkX0AYWDgT7DqL9HcILHHSsrTk0bOCAHS8qxAg130_provenance.
- NP319394.RAo9t8NBkX0AYWDgT7DqL9HcILHHSsrTk0bOCAHS8qxAg130_assertion description "[Report of five novel and one recurrent COL2A1 mutations with analysis of genotype-phenotype correlation in patients with a lethal type II collagen disorder.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP319394.RAo9t8NBkX0AYWDgT7DqL9HcILHHSsrTk0bOCAHS8qxAg130_provenance.
- NP319394.RAo9t8NBkX0AYWDgT7DqL9HcILHHSsrTk0bOCAHS8qxAg130_assertion evidence source_evidence_literature NP319394.RAo9t8NBkX0AYWDgT7DqL9HcILHHSsrTk0bOCAHS8qxAg130_provenance.
- NP319394.RAo9t8NBkX0AYWDgT7DqL9HcILHHSsrTk0bOCAHS8qxAg130_assertion SIO_000772 10745044 NP319394.RAo9t8NBkX0AYWDgT7DqL9HcILHHSsrTk0bOCAHS8qxAg130_provenance.
- NP319394.RAo9t8NBkX0AYWDgT7DqL9HcILHHSsrTk0bOCAHS8qxAg130_assertion wasDerivedFrom befree-20150227 NP319394.RAo9t8NBkX0AYWDgT7DqL9HcILHHSsrTk0bOCAHS8qxAg130_provenance.
- NP319394.RAo9t8NBkX0AYWDgT7DqL9HcILHHSsrTk0bOCAHS8qxAg130_assertion wasGeneratedBy ECO_0000203 NP319394.RAo9t8NBkX0AYWDgT7DqL9HcILHHSsrTk0bOCAHS8qxAg130_provenance.
- befree-20150227 importedOn "2015-02-27" NP319394.RAo9t8NBkX0AYWDgT7DqL9HcILHHSsrTk0bOCAHS8qxAg130_provenance.