Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP1138593.RArzdW_zPhAU5d4S5Jtv9fnewBGxiWQnCsL5z0fOgYmjY#provenance>. }
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- source_evidence_literature type ECO_0000212 provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." provenance.
- BEFREE importedOn "2017-02-19" provenance.
- assertion wasGeneratedBy ECO_0000203 provenance.
- assertion wasDerivedFrom BEFREE provenance.
- assertion SIO_000772 16104012 provenance.
- assertion evidence source_evidence_literature provenance.
- 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." provenance.