Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP311722.RA0-rZh5GksVrWUtMLISiiteYgVAftyhmwb4bGpFFZzfQ130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP311722.RA0-rZh5GksVrWUtMLISiiteYgVAftyhmwb4bGpFFZzfQ130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP311722.RA0-rZh5GksVrWUtMLISiiteYgVAftyhmwb4bGpFFZzfQ130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP311722.RA0-rZh5GksVrWUtMLISiiteYgVAftyhmwb4bGpFFZzfQ130_provenance.
- NP311722.RA0-rZh5GksVrWUtMLISiiteYgVAftyhmwb4bGpFFZzfQ130_assertion description "[Because this mutation has been described in multiple Caucasian and Japanese families, the codon CGA for Arg-1947 in the NF1 gene is considered to be a hotspot for mutation in neurofibromatosis type 1 in all ethnic groups.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP311722.RA0-rZh5GksVrWUtMLISiiteYgVAftyhmwb4bGpFFZzfQ130_provenance.
- NP311722.RA0-rZh5GksVrWUtMLISiiteYgVAftyhmwb4bGpFFZzfQ130_assertion evidence source_evidence_literature NP311722.RA0-rZh5GksVrWUtMLISiiteYgVAftyhmwb4bGpFFZzfQ130_provenance.
- NP311722.RA0-rZh5GksVrWUtMLISiiteYgVAftyhmwb4bGpFFZzfQ130_assertion SIO_000772 10721668 NP311722.RA0-rZh5GksVrWUtMLISiiteYgVAftyhmwb4bGpFFZzfQ130_provenance.
- NP311722.RA0-rZh5GksVrWUtMLISiiteYgVAftyhmwb4bGpFFZzfQ130_assertion wasDerivedFrom befree-20150227 NP311722.RA0-rZh5GksVrWUtMLISiiteYgVAftyhmwb4bGpFFZzfQ130_provenance.
- NP311722.RA0-rZh5GksVrWUtMLISiiteYgVAftyhmwb4bGpFFZzfQ130_assertion wasGeneratedBy ECO_0000203 NP311722.RA0-rZh5GksVrWUtMLISiiteYgVAftyhmwb4bGpFFZzfQ130_provenance.
- befree-20150227 importedOn "2015-02-27" NP311722.RA0-rZh5GksVrWUtMLISiiteYgVAftyhmwb4bGpFFZzfQ130_provenance.