Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP240604.RAmTr_NmjJrwjFHjBqDifH4US9W_iVQVmCRwHJZmWQYRo130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP240604.RAmTr_NmjJrwjFHjBqDifH4US9W_iVQVmCRwHJZmWQYRo130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP240604.RAmTr_NmjJrwjFHjBqDifH4US9W_iVQVmCRwHJZmWQYRo130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP240604.RAmTr_NmjJrwjFHjBqDifH4US9W_iVQVmCRwHJZmWQYRo130_provenance.
- NP240604.RAmTr_NmjJrwjFHjBqDifH4US9W_iVQVmCRwHJZmWQYRo130_assertion description "[Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypes.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP240604.RAmTr_NmjJrwjFHjBqDifH4US9W_iVQVmCRwHJZmWQYRo130_provenance.
- NP240604.RAmTr_NmjJrwjFHjBqDifH4US9W_iVQVmCRwHJZmWQYRo130_assertion evidence source_evidence_literature NP240604.RAmTr_NmjJrwjFHjBqDifH4US9W_iVQVmCRwHJZmWQYRo130_provenance.
- NP240604.RAmTr_NmjJrwjFHjBqDifH4US9W_iVQVmCRwHJZmWQYRo130_assertion SIO_000772 10486316 NP240604.RAmTr_NmjJrwjFHjBqDifH4US9W_iVQVmCRwHJZmWQYRo130_provenance.
- NP240604.RAmTr_NmjJrwjFHjBqDifH4US9W_iVQVmCRwHJZmWQYRo130_assertion wasDerivedFrom befree-20140225 NP240604.RAmTr_NmjJrwjFHjBqDifH4US9W_iVQVmCRwHJZmWQYRo130_provenance.
- NP240604.RAmTr_NmjJrwjFHjBqDifH4US9W_iVQVmCRwHJZmWQYRo130_assertion wasGeneratedBy ECO_0000203 NP240604.RAmTr_NmjJrwjFHjBqDifH4US9W_iVQVmCRwHJZmWQYRo130_provenance.
- befree-20140225 importedOn "2014-02-25" NP240604.RAmTr_NmjJrwjFHjBqDifH4US9W_iVQVmCRwHJZmWQYRo130_provenance.