Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP320342.RAdi59Q2vdrcsNPmVOk6SpThjEDXj06_iBR1_5br-QnSw130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP320342.RAdi59Q2vdrcsNPmVOk6SpThjEDXj06_iBR1_5br-QnSw130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP320342.RAdi59Q2vdrcsNPmVOk6SpThjEDXj06_iBR1_5br-QnSw130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP320342.RAdi59Q2vdrcsNPmVOk6SpThjEDXj06_iBR1_5br-QnSw130_provenance.
- befree-20150227 importedOn "2015-02-27" NP320342.RAdi59Q2vdrcsNPmVOk6SpThjEDXj06_iBR1_5br-QnSw130_provenance.
- NP320342.RAdi59Q2vdrcsNPmVOk6SpThjEDXj06_iBR1_5br-QnSw130_assertion wasGeneratedBy ECO_0000203 NP320342.RAdi59Q2vdrcsNPmVOk6SpThjEDXj06_iBR1_5br-QnSw130_provenance.
- NP320342.RAdi59Q2vdrcsNPmVOk6SpThjEDXj06_iBR1_5br-QnSw130_assertion wasDerivedFrom befree-20150227 NP320342.RAdi59Q2vdrcsNPmVOk6SpThjEDXj06_iBR1_5br-QnSw130_provenance.
- NP320342.RAdi59Q2vdrcsNPmVOk6SpThjEDXj06_iBR1_5br-QnSw130_assertion SIO_000772 15563506 NP320342.RAdi59Q2vdrcsNPmVOk6SpThjEDXj06_iBR1_5br-QnSw130_provenance.
- NP320342.RAdi59Q2vdrcsNPmVOk6SpThjEDXj06_iBR1_5br-QnSw130_assertion evidence source_evidence_literature NP320342.RAdi59Q2vdrcsNPmVOk6SpThjEDXj06_iBR1_5br-QnSw130_provenance.
- NP320342.RAdi59Q2vdrcsNPmVOk6SpThjEDXj06_iBR1_5br-QnSw130_assertion description "[This model, where dominant mutations cause mild Bethlem myopathy and recessive mutations cause severe UCMD was recently challenged when a patient with UCMD was shown to have a heterozygous in-frame deletion in COL6A1.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP320342.RAdi59Q2vdrcsNPmVOk6SpThjEDXj06_iBR1_5br-QnSw130_provenance.