Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP25639.RAP6aBp2iwlEbbP_MyoPZQXyRuzuAU5zgTR2_EMaxVbkQ130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP25639.RAP6aBp2iwlEbbP_MyoPZQXyRuzuAU5zgTR2_EMaxVbkQ130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP25639.RAP6aBp2iwlEbbP_MyoPZQXyRuzuAU5zgTR2_EMaxVbkQ130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP25639.RAP6aBp2iwlEbbP_MyoPZQXyRuzuAU5zgTR2_EMaxVbkQ130_provenance.
- NP25639.RAP6aBp2iwlEbbP_MyoPZQXyRuzuAU5zgTR2_EMaxVbkQ130_assertion description "[Mutations in SLC29A3, encoding an equilibrative nucleoside transporter ENT3, cause a familial histiocytosis syndrome (Faisalabad histiocytosis) and familial Rosai-Dorfman disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP25639.RAP6aBp2iwlEbbP_MyoPZQXyRuzuAU5zgTR2_EMaxVbkQ130_provenance.
- NP25639.RAP6aBp2iwlEbbP_MyoPZQXyRuzuAU5zgTR2_EMaxVbkQ130_assertion evidence source_evidence_curated NP25639.RAP6aBp2iwlEbbP_MyoPZQXyRuzuAU5zgTR2_EMaxVbkQ130_provenance.
- NP25639.RAP6aBp2iwlEbbP_MyoPZQXyRuzuAU5zgTR2_EMaxVbkQ130_assertion SIO_000772 20140240 NP25639.RAP6aBp2iwlEbbP_MyoPZQXyRuzuAU5zgTR2_EMaxVbkQ130_provenance.
- NP25639.RAP6aBp2iwlEbbP_MyoPZQXyRuzuAU5zgTR2_EMaxVbkQ130_assertion wasDerivedFrom ctd_human-2016 NP25639.RAP6aBp2iwlEbbP_MyoPZQXyRuzuAU5zgTR2_EMaxVbkQ130_provenance.
- NP25639.RAP6aBp2iwlEbbP_MyoPZQXyRuzuAU5zgTR2_EMaxVbkQ130_assertion wasGeneratedBy ECO_0000218 NP25639.RAP6aBp2iwlEbbP_MyoPZQXyRuzuAU5zgTR2_EMaxVbkQ130_provenance.
- ctd_human-2016 importedOn "2016-01-25" NP25639.RAP6aBp2iwlEbbP_MyoPZQXyRuzuAU5zgTR2_EMaxVbkQ130_provenance.