Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP269791.RAFQ0V7IPKXPGlquYTZEfqxCSOB5FifXc-KEx0RYRgU00130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP269791.RAFQ0V7IPKXPGlquYTZEfqxCSOB5FifXc-KEx0RYRgU00130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP269791.RAFQ0V7IPKXPGlquYTZEfqxCSOB5FifXc-KEx0RYRgU00130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP269791.RAFQ0V7IPKXPGlquYTZEfqxCSOB5FifXc-KEx0RYRgU00130_provenance.
- befree-2016 importedOn "2016-02-19" NP269791.RAFQ0V7IPKXPGlquYTZEfqxCSOB5FifXc-KEx0RYRgU00130_provenance.
- NP269791.RAFQ0V7IPKXPGlquYTZEfqxCSOB5FifXc-KEx0RYRgU00130_assertion wasGeneratedBy ECO_0000203 NP269791.RAFQ0V7IPKXPGlquYTZEfqxCSOB5FifXc-KEx0RYRgU00130_provenance.
- NP269791.RAFQ0V7IPKXPGlquYTZEfqxCSOB5FifXc-KEx0RYRgU00130_assertion wasDerivedFrom befree-2016 NP269791.RAFQ0V7IPKXPGlquYTZEfqxCSOB5FifXc-KEx0RYRgU00130_provenance.
- NP269791.RAFQ0V7IPKXPGlquYTZEfqxCSOB5FifXc-KEx0RYRgU00130_assertion SIO_000772 10597140 NP269791.RAFQ0V7IPKXPGlquYTZEfqxCSOB5FifXc-KEx0RYRgU00130_provenance.
- NP269791.RAFQ0V7IPKXPGlquYTZEfqxCSOB5FifXc-KEx0RYRgU00130_assertion evidence source_evidence_literature NP269791.RAFQ0V7IPKXPGlquYTZEfqxCSOB5FifXc-KEx0RYRgU00130_provenance.
- NP269791.RAFQ0V7IPKXPGlquYTZEfqxCSOB5FifXc-KEx0RYRgU00130_assertion description "[A wide variety of mutations within the highly conserved helix termination motifs of the central rod domains of the K1 or K10 genes correlate with the highly variable phenotypic severity observed in EHK.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP269791.RAFQ0V7IPKXPGlquYTZEfqxCSOB5FifXc-KEx0RYRgU00130_provenance.