Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP744196.RAQhJmghshU7F9wJOfOhDPZNq8IkpAN0ZZ0Sb7fIqXFrk130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP744196.RAQhJmghshU7F9wJOfOhDPZNq8IkpAN0ZZ0Sb7fIqXFrk130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP744196.RAQhJmghshU7F9wJOfOhDPZNq8IkpAN0ZZ0Sb7fIqXFrk130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP744196.RAQhJmghshU7F9wJOfOhDPZNq8IkpAN0ZZ0Sb7fIqXFrk130_provenance.
- NP744196.RAQhJmghshU7F9wJOfOhDPZNq8IkpAN0ZZ0Sb7fIqXFrk130_assertion description "[A compound heterozygote harboring novel and recurrent DTDST mutations with intermediate phenotype between atelosteogenesis type II and diastrophic dysplasia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP744196.RAQhJmghshU7F9wJOfOhDPZNq8IkpAN0ZZ0Sb7fIqXFrk130_provenance.
- NP744196.RAQhJmghshU7F9wJOfOhDPZNq8IkpAN0ZZ0Sb7fIqXFrk130_assertion evidence source_evidence_literature NP744196.RAQhJmghshU7F9wJOfOhDPZNq8IkpAN0ZZ0Sb7fIqXFrk130_provenance.
- NP744196.RAQhJmghshU7F9wJOfOhDPZNq8IkpAN0ZZ0Sb7fIqXFrk130_assertion SIO_000772 16642506 NP744196.RAQhJmghshU7F9wJOfOhDPZNq8IkpAN0ZZ0Sb7fIqXFrk130_provenance.
- NP744196.RAQhJmghshU7F9wJOfOhDPZNq8IkpAN0ZZ0Sb7fIqXFrk130_assertion wasDerivedFrom befree-20140225 NP744196.RAQhJmghshU7F9wJOfOhDPZNq8IkpAN0ZZ0Sb7fIqXFrk130_provenance.
- NP744196.RAQhJmghshU7F9wJOfOhDPZNq8IkpAN0ZZ0Sb7fIqXFrk130_assertion wasGeneratedBy ECO_0000203 NP744196.RAQhJmghshU7F9wJOfOhDPZNq8IkpAN0ZZ0Sb7fIqXFrk130_provenance.
- befree-20140225 importedOn "2014-02-25" NP744196.RAQhJmghshU7F9wJOfOhDPZNq8IkpAN0ZZ0Sb7fIqXFrk130_provenance.