Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP538504.RAuCFLFhbrO3JoSTJrlIAI4FvGRL2Zdp1mHmokgMyzmH4130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP538504.RAuCFLFhbrO3JoSTJrlIAI4FvGRL2Zdp1mHmokgMyzmH4130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP538504.RAuCFLFhbrO3JoSTJrlIAI4FvGRL2Zdp1mHmokgMyzmH4130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP538504.RAuCFLFhbrO3JoSTJrlIAI4FvGRL2Zdp1mHmokgMyzmH4130_provenance.
- NP538504.RAuCFLFhbrO3JoSTJrlIAI4FvGRL2Zdp1mHmokgMyzmH4130_assertion description "[The 5T allele of the polyT tract located within intron 8 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene is a variant that in trans with a severe CFTR mutation can result in normal phenotype, congenital bilateral absence of vas deferens (CBAVD), or mild cystic fibrosis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP538504.RAuCFLFhbrO3JoSTJrlIAI4FvGRL2Zdp1mHmokgMyzmH4130_provenance.
- NP538504.RAuCFLFhbrO3JoSTJrlIAI4FvGRL2Zdp1mHmokgMyzmH4130_assertion evidence source_evidence_literature NP538504.RAuCFLFhbrO3JoSTJrlIAI4FvGRL2Zdp1mHmokgMyzmH4130_provenance.
- NP538504.RAuCFLFhbrO3JoSTJrlIAI4FvGRL2Zdp1mHmokgMyzmH4130_assertion SIO_000772 17234733 NP538504.RAuCFLFhbrO3JoSTJrlIAI4FvGRL2Zdp1mHmokgMyzmH4130_provenance.
- NP538504.RAuCFLFhbrO3JoSTJrlIAI4FvGRL2Zdp1mHmokgMyzmH4130_assertion wasDerivedFrom befree-20140225 NP538504.RAuCFLFhbrO3JoSTJrlIAI4FvGRL2Zdp1mHmokgMyzmH4130_provenance.
- NP538504.RAuCFLFhbrO3JoSTJrlIAI4FvGRL2Zdp1mHmokgMyzmH4130_assertion wasGeneratedBy ECO_0000203 NP538504.RAuCFLFhbrO3JoSTJrlIAI4FvGRL2Zdp1mHmokgMyzmH4130_provenance.
- befree-20140225 importedOn "2014-02-25" NP538504.RAuCFLFhbrO3JoSTJrlIAI4FvGRL2Zdp1mHmokgMyzmH4130_provenance.