Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP24251.RASSTyWoibDkKUoZ379qUGUU_vszVuar1YWF9ZeicBsBc130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP24251.RASSTyWoibDkKUoZ379qUGUU_vszVuar1YWF9ZeicBsBc130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP24251.RASSTyWoibDkKUoZ379qUGUU_vszVuar1YWF9ZeicBsBc130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP24251.RASSTyWoibDkKUoZ379qUGUU_vszVuar1YWF9ZeicBsBc130_provenance.
- NP24251.RASSTyWoibDkKUoZ379qUGUU_vszVuar1YWF9ZeicBsBc130_assertion description "[Here we describe mutations in SAMHD1 as the cause of AGS at the AGS5 locus and present data to show that SAMHD1 may act as a negative regulator of the cell-intrinsic antiviral response.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP24251.RASSTyWoibDkKUoZ379qUGUU_vszVuar1YWF9ZeicBsBc130_provenance.
- NP24251.RASSTyWoibDkKUoZ379qUGUU_vszVuar1YWF9ZeicBsBc130_assertion evidence source_evidence_curated NP24251.RASSTyWoibDkKUoZ379qUGUU_vszVuar1YWF9ZeicBsBc130_provenance.
- NP24251.RASSTyWoibDkKUoZ379qUGUU_vszVuar1YWF9ZeicBsBc130_assertion SIO_000772 19525956 NP24251.RASSTyWoibDkKUoZ379qUGUU_vszVuar1YWF9ZeicBsBc130_provenance.
- NP24251.RASSTyWoibDkKUoZ379qUGUU_vszVuar1YWF9ZeicBsBc130_assertion wasDerivedFrom ctd_human-2016 NP24251.RASSTyWoibDkKUoZ379qUGUU_vszVuar1YWF9ZeicBsBc130_provenance.
- NP24251.RASSTyWoibDkKUoZ379qUGUU_vszVuar1YWF9ZeicBsBc130_assertion wasGeneratedBy ECO_0000218 NP24251.RASSTyWoibDkKUoZ379qUGUU_vszVuar1YWF9ZeicBsBc130_provenance.
- ctd_human-2016 importedOn "2016-01-25" NP24251.RASSTyWoibDkKUoZ379qUGUU_vszVuar1YWF9ZeicBsBc130_provenance.