Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP509203.RAZOL5t2RFQAgurwpoXlkIy9ncKogdXHgxUrs3sbCc-6U130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP509203.RAZOL5t2RFQAgurwpoXlkIy9ncKogdXHgxUrs3sbCc-6U130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP509203.RAZOL5t2RFQAgurwpoXlkIy9ncKogdXHgxUrs3sbCc-6U130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP509203.RAZOL5t2RFQAgurwpoXlkIy9ncKogdXHgxUrs3sbCc-6U130_provenance.
- befree-2016 importedOn "2016-02-19" NP509203.RAZOL5t2RFQAgurwpoXlkIy9ncKogdXHgxUrs3sbCc-6U130_provenance.
- NP509203.RAZOL5t2RFQAgurwpoXlkIy9ncKogdXHgxUrs3sbCc-6U130_assertion wasGeneratedBy ECO_0000203 NP509203.RAZOL5t2RFQAgurwpoXlkIy9ncKogdXHgxUrs3sbCc-6U130_provenance.
- NP509203.RAZOL5t2RFQAgurwpoXlkIy9ncKogdXHgxUrs3sbCc-6U130_assertion wasDerivedFrom befree-2016 NP509203.RAZOL5t2RFQAgurwpoXlkIy9ncKogdXHgxUrs3sbCc-6U130_provenance.
- NP509203.RAZOL5t2RFQAgurwpoXlkIy9ncKogdXHgxUrs3sbCc-6U130_assertion SIO_000772 16104012 NP509203.RAZOL5t2RFQAgurwpoXlkIy9ncKogdXHgxUrs3sbCc-6U130_provenance.
- NP509203.RAZOL5t2RFQAgurwpoXlkIy9ncKogdXHgxUrs3sbCc-6U130_assertion evidence source_evidence_literature NP509203.RAZOL5t2RFQAgurwpoXlkIy9ncKogdXHgxUrs3sbCc-6U130_provenance.
- NP509203.RAZOL5t2RFQAgurwpoXlkIy9ncKogdXHgxUrs3sbCc-6U130_assertion description "[We describe an Amish family with MKS, where three children were affected with homozygous MKKS (BBS6) mutations (H84Y and A242S on both alleles), their father was a carrier, and their mother was homozygous for the same MKKS mutations, but she was non-penetrant.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP509203.RAZOL5t2RFQAgurwpoXlkIy9ncKogdXHgxUrs3sbCc-6U130_provenance.