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- source_evidence_literature type ECO_0000212 NP426332.RARihlqYCh9He6MRjPQ2A05Fo4-Az580x266jk7Z5OhIY130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP426332.RARihlqYCh9He6MRjPQ2A05Fo4-Az580x266jk7Z5OhIY130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP426332.RARihlqYCh9He6MRjPQ2A05Fo4-Az580x266jk7Z5OhIY130_provenance.
- NP426332.RARihlqYCh9He6MRjPQ2A05Fo4-Az580x266jk7Z5OhIY130_assertion description "[In total, we identified five novel and one previously reported mutation, all clustered near the carboxyl terminus of the gene, suggesting an allele specific genotype-phenotype effect since other mutations in NOTCH2 have been reported to cause a form of Alagille syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP426332.RARihlqYCh9He6MRjPQ2A05Fo4-Az580x266jk7Z5OhIY130_provenance.
- NP426332.RARihlqYCh9He6MRjPQ2A05Fo4-Az580x266jk7Z5OhIY130_assertion evidence source_evidence_literature NP426332.RARihlqYCh9He6MRjPQ2A05Fo4-Az580x266jk7Z5OhIY130_provenance.
- NP426332.RARihlqYCh9He6MRjPQ2A05Fo4-Az580x266jk7Z5OhIY130_assertion SIO_000772 21681853 NP426332.RARihlqYCh9He6MRjPQ2A05Fo4-Az580x266jk7Z5OhIY130_provenance.
- NP426332.RARihlqYCh9He6MRjPQ2A05Fo4-Az580x266jk7Z5OhIY130_assertion wasDerivedFrom befree-20140225 NP426332.RARihlqYCh9He6MRjPQ2A05Fo4-Az580x266jk7Z5OhIY130_provenance.
- NP426332.RARihlqYCh9He6MRjPQ2A05Fo4-Az580x266jk7Z5OhIY130_assertion wasGeneratedBy ECO_0000203 NP426332.RARihlqYCh9He6MRjPQ2A05Fo4-Az580x266jk7Z5OhIY130_provenance.
- befree-20140225 importedOn "2014-02-25" NP426332.RARihlqYCh9He6MRjPQ2A05Fo4-Az580x266jk7Z5OhIY130_provenance.