Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP313120.RASmaXeDqXvJO9tnY5PzakuxES3fVkxl7ZF0cVHA_CmeQ130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP313120.RASmaXeDqXvJO9tnY5PzakuxES3fVkxl7ZF0cVHA_CmeQ130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP313120.RASmaXeDqXvJO9tnY5PzakuxES3fVkxl7ZF0cVHA_CmeQ130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP313120.RASmaXeDqXvJO9tnY5PzakuxES3fVkxl7ZF0cVHA_CmeQ130_provenance.
- NP313120.RASmaXeDqXvJO9tnY5PzakuxES3fVkxl7ZF0cVHA_CmeQ130_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." NP313120.RASmaXeDqXvJO9tnY5PzakuxES3fVkxl7ZF0cVHA_CmeQ130_provenance.
- NP313120.RASmaXeDqXvJO9tnY5PzakuxES3fVkxl7ZF0cVHA_CmeQ130_assertion evidence source_evidence_literature NP313120.RASmaXeDqXvJO9tnY5PzakuxES3fVkxl7ZF0cVHA_CmeQ130_provenance.
- NP313120.RASmaXeDqXvJO9tnY5PzakuxES3fVkxl7ZF0cVHA_CmeQ130_assertion SIO_000772 10721668 NP313120.RASmaXeDqXvJO9tnY5PzakuxES3fVkxl7ZF0cVHA_CmeQ130_provenance.
- NP313120.RASmaXeDqXvJO9tnY5PzakuxES3fVkxl7ZF0cVHA_CmeQ130_assertion wasDerivedFrom befree-20150227 NP313120.RASmaXeDqXvJO9tnY5PzakuxES3fVkxl7ZF0cVHA_CmeQ130_provenance.
- NP313120.RASmaXeDqXvJO9tnY5PzakuxES3fVkxl7ZF0cVHA_CmeQ130_assertion wasGeneratedBy ECO_0000203 NP313120.RASmaXeDqXvJO9tnY5PzakuxES3fVkxl7ZF0cVHA_CmeQ130_provenance.
- befree-20150227 importedOn "2015-02-27" NP313120.RASmaXeDqXvJO9tnY5PzakuxES3fVkxl7ZF0cVHA_CmeQ130_provenance.