Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP470867.RAg8-YmHOFc5ztk3V7B4YeGafxiN9sM4nmuaXvP25vTP4130_provenance>. }
Showing items 1 to 9 of
9
with 100 items per page.
- source_evidence_literature type ECO_0000212 NP470867.RAg8-YmHOFc5ztk3V7B4YeGafxiN9sM4nmuaXvP25vTP4130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP470867.RAg8-YmHOFc5ztk3V7B4YeGafxiN9sM4nmuaXvP25vTP4130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP470867.RAg8-YmHOFc5ztk3V7B4YeGafxiN9sM4nmuaXvP25vTP4130_provenance.
- NP470867.RAg8-YmHOFc5ztk3V7B4YeGafxiN9sM4nmuaXvP25vTP4130_assertion description "[Mutations in the gene encoding fukutin-related protein (FKRP) cause a spectrum of diseases including congenital muscular dystrophy type 1C (MDC1C), limb girdle muscular dystrophy 2I (LGMD2I) and congenital muscular dystrophies (CMDs) with brain malformations and mental retardation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP470867.RAg8-YmHOFc5ztk3V7B4YeGafxiN9sM4nmuaXvP25vTP4130_provenance.
- NP470867.RAg8-YmHOFc5ztk3V7B4YeGafxiN9sM4nmuaXvP25vTP4130_assertion evidence source_evidence_literature NP470867.RAg8-YmHOFc5ztk3V7B4YeGafxiN9sM4nmuaXvP25vTP4130_provenance.
- NP470867.RAg8-YmHOFc5ztk3V7B4YeGafxiN9sM4nmuaXvP25vTP4130_assertion SIO_000772 15574464 NP470867.RAg8-YmHOFc5ztk3V7B4YeGafxiN9sM4nmuaXvP25vTP4130_provenance.
- NP470867.RAg8-YmHOFc5ztk3V7B4YeGafxiN9sM4nmuaXvP25vTP4130_assertion wasDerivedFrom befree-2016 NP470867.RAg8-YmHOFc5ztk3V7B4YeGafxiN9sM4nmuaXvP25vTP4130_provenance.
- NP470867.RAg8-YmHOFc5ztk3V7B4YeGafxiN9sM4nmuaXvP25vTP4130_assertion wasGeneratedBy ECO_0000203 NP470867.RAg8-YmHOFc5ztk3V7B4YeGafxiN9sM4nmuaXvP25vTP4130_provenance.
- befree-2016 importedOn "2016-02-19" NP470867.RAg8-YmHOFc5ztk3V7B4YeGafxiN9sM4nmuaXvP25vTP4130_provenance.