Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP458933.RAO74FvELmzLpkww-OtPMtigBuogO109DDAU2NPpAIu8k130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP458933.RAO74FvELmzLpkww-OtPMtigBuogO109DDAU2NPpAIu8k130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP458933.RAO74FvELmzLpkww-OtPMtigBuogO109DDAU2NPpAIu8k130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP458933.RAO74FvELmzLpkww-OtPMtigBuogO109DDAU2NPpAIu8k130_provenance.
- NP458933.RAO74FvELmzLpkww-OtPMtigBuogO109DDAU2NPpAIu8k130_assertion description "[We report 7 patients diagnosed in the neonatal period with hydrometrocolpos and polydactyly who carry mutations in various BBS genes (BBS6, BBS2, BBS10, BBS8 and BBS12), stressing the importance of wide BBS genotyping in patients with this clinical association for diagnosis, prognosis and genetic counselling.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP458933.RAO74FvELmzLpkww-OtPMtigBuogO109DDAU2NPpAIu8k130_provenance.
- NP458933.RAO74FvELmzLpkww-OtPMtigBuogO109DDAU2NPpAIu8k130_assertion evidence source_evidence_literature NP458933.RAO74FvELmzLpkww-OtPMtigBuogO109DDAU2NPpAIu8k130_provenance.
- NP458933.RAO74FvELmzLpkww-OtPMtigBuogO109DDAU2NPpAIu8k130_assertion SIO_000772 21044901 NP458933.RAO74FvELmzLpkww-OtPMtigBuogO109DDAU2NPpAIu8k130_provenance.
- NP458933.RAO74FvELmzLpkww-OtPMtigBuogO109DDAU2NPpAIu8k130_assertion wasDerivedFrom befree-20140225 NP458933.RAO74FvELmzLpkww-OtPMtigBuogO109DDAU2NPpAIu8k130_provenance.
- NP458933.RAO74FvELmzLpkww-OtPMtigBuogO109DDAU2NPpAIu8k130_assertion wasGeneratedBy ECO_0000203 NP458933.RAO74FvELmzLpkww-OtPMtigBuogO109DDAU2NPpAIu8k130_provenance.
- befree-20140225 importedOn "2014-02-25" NP458933.RAO74FvELmzLpkww-OtPMtigBuogO109DDAU2NPpAIu8k130_provenance.