Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP921809.RAHQgXUsAc0lMHflndZHoxexQJQRdOVjfE5XA51hcWSqc130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP921809.RAHQgXUsAc0lMHflndZHoxexQJQRdOVjfE5XA51hcWSqc130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP921809.RAHQgXUsAc0lMHflndZHoxexQJQRdOVjfE5XA51hcWSqc130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP921809.RAHQgXUsAc0lMHflndZHoxexQJQRdOVjfE5XA51hcWSqc130_provenance.
- NP921809.RAHQgXUsAc0lMHflndZHoxexQJQRdOVjfE5XA51hcWSqc130_assertion description "[Remarkably, careful review of the clinical data showed that mutations in RPL5 are associated with multiple physical abnormalities, including craniofacial, thumb, and heart anomalies, whereas isolated thumb malformations are predominantly present in patients carrying mutations in RPL11.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP921809.RAHQgXUsAc0lMHflndZHoxexQJQRdOVjfE5XA51hcWSqc130_provenance.
- NP921809.RAHQgXUsAc0lMHflndZHoxexQJQRdOVjfE5XA51hcWSqc130_assertion evidence source_evidence_literature NP921809.RAHQgXUsAc0lMHflndZHoxexQJQRdOVjfE5XA51hcWSqc130_provenance.
- NP921809.RAHQgXUsAc0lMHflndZHoxexQJQRdOVjfE5XA51hcWSqc130_assertion SIO_000772 19061985 NP921809.RAHQgXUsAc0lMHflndZHoxexQJQRdOVjfE5XA51hcWSqc130_provenance.
- NP921809.RAHQgXUsAc0lMHflndZHoxexQJQRdOVjfE5XA51hcWSqc130_assertion wasDerivedFrom befree-20140225 NP921809.RAHQgXUsAc0lMHflndZHoxexQJQRdOVjfE5XA51hcWSqc130_provenance.
- NP921809.RAHQgXUsAc0lMHflndZHoxexQJQRdOVjfE5XA51hcWSqc130_assertion wasGeneratedBy ECO_0000203 NP921809.RAHQgXUsAc0lMHflndZHoxexQJQRdOVjfE5XA51hcWSqc130_provenance.
- befree-20140225 importedOn "2014-02-25" NP921809.RAHQgXUsAc0lMHflndZHoxexQJQRdOVjfE5XA51hcWSqc130_provenance.