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- source_evidence_literature type ECO_0000212 NP874191.RApChMVJuovq9HofpKdzSjvJVhyJUWCOtXDjqUSXmpKf8130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP874191.RApChMVJuovq9HofpKdzSjvJVhyJUWCOtXDjqUSXmpKf8130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP874191.RApChMVJuovq9HofpKdzSjvJVhyJUWCOtXDjqUSXmpKf8130_provenance.
- NP874191.RApChMVJuovq9HofpKdzSjvJVhyJUWCOtXDjqUSXmpKf8130_assertion description "[BMP4 deletions were detected in two patients: a patient affected with SHORT syndrome and a patient with anterior segment anomalies along with craniofacial dysmorphism and cognitive impairment.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP874191.RApChMVJuovq9HofpKdzSjvJVhyJUWCOtXDjqUSXmpKf8130_provenance.
- NP874191.RApChMVJuovq9HofpKdzSjvJVhyJUWCOtXDjqUSXmpKf8130_assertion evidence source_evidence_literature NP874191.RApChMVJuovq9HofpKdzSjvJVhyJUWCOtXDjqUSXmpKf8130_provenance.
- NP874191.RApChMVJuovq9HofpKdzSjvJVhyJUWCOtXDjqUSXmpKf8130_assertion SIO_000772 21340693 NP874191.RApChMVJuovq9HofpKdzSjvJVhyJUWCOtXDjqUSXmpKf8130_provenance.
- NP874191.RApChMVJuovq9HofpKdzSjvJVhyJUWCOtXDjqUSXmpKf8130_assertion wasDerivedFrom befree-2016 NP874191.RApChMVJuovq9HofpKdzSjvJVhyJUWCOtXDjqUSXmpKf8130_provenance.
- NP874191.RApChMVJuovq9HofpKdzSjvJVhyJUWCOtXDjqUSXmpKf8130_assertion wasGeneratedBy ECO_0000203 NP874191.RApChMVJuovq9HofpKdzSjvJVhyJUWCOtXDjqUSXmpKf8130_provenance.
- befree-2016 importedOn "2016-02-19" NP874191.RApChMVJuovq9HofpKdzSjvJVhyJUWCOtXDjqUSXmpKf8130_provenance.