Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP451902.RAZ6aTKNqnujIH9CAQ1M6oOAQflWKKLedy_JK_b8N0vf4130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP451902.RAZ6aTKNqnujIH9CAQ1M6oOAQflWKKLedy_JK_b8N0vf4130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP451902.RAZ6aTKNqnujIH9CAQ1M6oOAQflWKKLedy_JK_b8N0vf4130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP451902.RAZ6aTKNqnujIH9CAQ1M6oOAQflWKKLedy_JK_b8N0vf4130_provenance.
- NP451902.RAZ6aTKNqnujIH9CAQ1M6oOAQflWKKLedy_JK_b8N0vf4130_assertion description "[Conclusions: The results confirm that c.649dupC, a truncating mutation of PRRT2, is a hotspot mutation resulting in BFIE or ICCA regardless of the ethnic background.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP451902.RAZ6aTKNqnujIH9CAQ1M6oOAQflWKKLedy_JK_b8N0vf4130_provenance.
- NP451902.RAZ6aTKNqnujIH9CAQ1M6oOAQflWKKLedy_JK_b8N0vf4130_assertion evidence source_evidence_literature NP451902.RAZ6aTKNqnujIH9CAQ1M6oOAQflWKKLedy_JK_b8N0vf4130_provenance.
- NP451902.RAZ6aTKNqnujIH9CAQ1M6oOAQflWKKLedy_JK_b8N0vf4130_assertion SIO_000772 23073245 NP451902.RAZ6aTKNqnujIH9CAQ1M6oOAQflWKKLedy_JK_b8N0vf4130_provenance.
- NP451902.RAZ6aTKNqnujIH9CAQ1M6oOAQflWKKLedy_JK_b8N0vf4130_assertion wasDerivedFrom befree-20140225 NP451902.RAZ6aTKNqnujIH9CAQ1M6oOAQflWKKLedy_JK_b8N0vf4130_provenance.
- NP451902.RAZ6aTKNqnujIH9CAQ1M6oOAQflWKKLedy_JK_b8N0vf4130_assertion wasGeneratedBy ECO_0000203 NP451902.RAZ6aTKNqnujIH9CAQ1M6oOAQflWKKLedy_JK_b8N0vf4130_provenance.
- befree-20140225 importedOn "2014-02-25" NP451902.RAZ6aTKNqnujIH9CAQ1M6oOAQflWKKLedy_JK_b8N0vf4130_provenance.