Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP606584.RASFIlw2kOEb3tQ3eCF5VrtDshjNYVWQBHyVP6LZIZ36Q130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP606584.RASFIlw2kOEb3tQ3eCF5VrtDshjNYVWQBHyVP6LZIZ36Q130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP606584.RASFIlw2kOEb3tQ3eCF5VrtDshjNYVWQBHyVP6LZIZ36Q130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP606584.RASFIlw2kOEb3tQ3eCF5VrtDshjNYVWQBHyVP6LZIZ36Q130_provenance.
- NP606584.RASFIlw2kOEb3tQ3eCF5VrtDshjNYVWQBHyVP6LZIZ36Q130_assertion description "[We identified pathogenic mutations of human FIG4 (KIAA0274) on chromosome 6q21 in four unrelated patients with hereditary motor and sensory neuropathy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP606584.RASFIlw2kOEb3tQ3eCF5VrtDshjNYVWQBHyVP6LZIZ36Q130_provenance.
- NP606584.RASFIlw2kOEb3tQ3eCF5VrtDshjNYVWQBHyVP6LZIZ36Q130_assertion evidence source_evidence_literature NP606584.RASFIlw2kOEb3tQ3eCF5VrtDshjNYVWQBHyVP6LZIZ36Q130_provenance.
- NP606584.RASFIlw2kOEb3tQ3eCF5VrtDshjNYVWQBHyVP6LZIZ36Q130_assertion SIO_000772 17572665 NP606584.RASFIlw2kOEb3tQ3eCF5VrtDshjNYVWQBHyVP6LZIZ36Q130_provenance.
- NP606584.RASFIlw2kOEb3tQ3eCF5VrtDshjNYVWQBHyVP6LZIZ36Q130_assertion wasDerivedFrom befree-20140225 NP606584.RASFIlw2kOEb3tQ3eCF5VrtDshjNYVWQBHyVP6LZIZ36Q130_provenance.
- NP606584.RASFIlw2kOEb3tQ3eCF5VrtDshjNYVWQBHyVP6LZIZ36Q130_assertion wasGeneratedBy ECO_0000203 NP606584.RASFIlw2kOEb3tQ3eCF5VrtDshjNYVWQBHyVP6LZIZ36Q130_provenance.
- befree-20140225 importedOn "2014-02-25" NP606584.RASFIlw2kOEb3tQ3eCF5VrtDshjNYVWQBHyVP6LZIZ36Q130_provenance.