Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP30969.RA4257C17quRtCd6ciJF4weZRcRKnABnPDM3EgmXLGUlU130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP30969.RA4257C17quRtCd6ciJF4weZRcRKnABnPDM3EgmXLGUlU130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP30969.RA4257C17quRtCd6ciJF4weZRcRKnABnPDM3EgmXLGUlU130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP30969.RA4257C17quRtCd6ciJF4weZRcRKnABnPDM3EgmXLGUlU130_provenance.
- NP30969.RA4257C17quRtCd6ciJF4weZRcRKnABnPDM3EgmXLGUlU130_assertion description "[Mutations affecting the cytoplasmic functions of the co-chaperone DNAJB6 cause limb-girdle muscular dystrophy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP30969.RA4257C17quRtCd6ciJF4weZRcRKnABnPDM3EgmXLGUlU130_provenance.
- NP30969.RA4257C17quRtCd6ciJF4weZRcRKnABnPDM3EgmXLGUlU130_assertion evidence source_evidence_curated NP30969.RA4257C17quRtCd6ciJF4weZRcRKnABnPDM3EgmXLGUlU130_provenance.
- NP30969.RA4257C17quRtCd6ciJF4weZRcRKnABnPDM3EgmXLGUlU130_assertion SIO_000772 22366786 NP30969.RA4257C17quRtCd6ciJF4weZRcRKnABnPDM3EgmXLGUlU130_provenance.
- NP30969.RA4257C17quRtCd6ciJF4weZRcRKnABnPDM3EgmXLGUlU130_assertion wasDerivedFrom ctd_human-2016 NP30969.RA4257C17quRtCd6ciJF4weZRcRKnABnPDM3EgmXLGUlU130_provenance.
- NP30969.RA4257C17quRtCd6ciJF4weZRcRKnABnPDM3EgmXLGUlU130_assertion wasGeneratedBy ECO_0000218 NP30969.RA4257C17quRtCd6ciJF4weZRcRKnABnPDM3EgmXLGUlU130_provenance.
- ctd_human-2016 importedOn "2016-01-25" NP30969.RA4257C17quRtCd6ciJF4weZRcRKnABnPDM3EgmXLGUlU130_provenance.