Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP711996.RASfKHN8tMaZaidPR5QCQdlN9Qjgeuemgn6fmEimJU3gg130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP711996.RASfKHN8tMaZaidPR5QCQdlN9Qjgeuemgn6fmEimJU3gg130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP711996.RASfKHN8tMaZaidPR5QCQdlN9Qjgeuemgn6fmEimJU3gg130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP711996.RASfKHN8tMaZaidPR5QCQdlN9Qjgeuemgn6fmEimJU3gg130_provenance.
- NP711996.RASfKHN8tMaZaidPR5QCQdlN9Qjgeuemgn6fmEimJU3gg130_assertion description "[RAB7 mutations were only found in patients with a Charcot-Marie-Tooth type 2B (CMT2B) phenotype, an axonal sensory-motor neuropathy with pronounced ulcero-mutilations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP711996.RASfKHN8tMaZaidPR5QCQdlN9Qjgeuemgn6fmEimJU3gg130_provenance.
- NP711996.RASfKHN8tMaZaidPR5QCQdlN9Qjgeuemgn6fmEimJU3gg130_assertion evidence source_evidence_literature NP711996.RASfKHN8tMaZaidPR5QCQdlN9Qjgeuemgn6fmEimJU3gg130_provenance.
- NP711996.RASfKHN8tMaZaidPR5QCQdlN9Qjgeuemgn6fmEimJU3gg130_assertion SIO_000772 19651702 NP711996.RASfKHN8tMaZaidPR5QCQdlN9Qjgeuemgn6fmEimJU3gg130_provenance.
- NP711996.RASfKHN8tMaZaidPR5QCQdlN9Qjgeuemgn6fmEimJU3gg130_assertion wasDerivedFrom befree-20140225 NP711996.RASfKHN8tMaZaidPR5QCQdlN9Qjgeuemgn6fmEimJU3gg130_provenance.
- NP711996.RASfKHN8tMaZaidPR5QCQdlN9Qjgeuemgn6fmEimJU3gg130_assertion wasGeneratedBy ECO_0000203 NP711996.RASfKHN8tMaZaidPR5QCQdlN9Qjgeuemgn6fmEimJU3gg130_provenance.
- befree-20140225 importedOn "2014-02-25" NP711996.RASfKHN8tMaZaidPR5QCQdlN9Qjgeuemgn6fmEimJU3gg130_provenance.