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- source_evidence_literature type ECO_0000212 NP880399.RAeZwu0Ske161R24ETjpYXW7vJqJRyrPPRC_GoMe141jc130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP880399.RAeZwu0Ske161R24ETjpYXW7vJqJRyrPPRC_GoMe141jc130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP880399.RAeZwu0Ske161R24ETjpYXW7vJqJRyrPPRC_GoMe141jc130_provenance.
- befree-20150227 importedOn "2015-02-27" NP880399.RAeZwu0Ske161R24ETjpYXW7vJqJRyrPPRC_GoMe141jc130_provenance.
- NP880399.RAeZwu0Ske161R24ETjpYXW7vJqJRyrPPRC_GoMe141jc130_assertion wasGeneratedBy ECO_0000203 NP880399.RAeZwu0Ske161R24ETjpYXW7vJqJRyrPPRC_GoMe141jc130_provenance.
- NP880399.RAeZwu0Ske161R24ETjpYXW7vJqJRyrPPRC_GoMe141jc130_assertion wasDerivedFrom befree-20150227 NP880399.RAeZwu0Ske161R24ETjpYXW7vJqJRyrPPRC_GoMe141jc130_provenance.
- NP880399.RAeZwu0Ske161R24ETjpYXW7vJqJRyrPPRC_GoMe141jc130_assertion SIO_000772 25038827 NP880399.RAeZwu0Ske161R24ETjpYXW7vJqJRyrPPRC_GoMe141jc130_provenance.
- NP880399.RAeZwu0Ske161R24ETjpYXW7vJqJRyrPPRC_GoMe141jc130_assertion evidence source_evidence_literature NP880399.RAeZwu0Ske161R24ETjpYXW7vJqJRyrPPRC_GoMe141jc130_provenance.
- NP880399.RAeZwu0Ske161R24ETjpYXW7vJqJRyrPPRC_GoMe141jc130_assertion description "[By enzymatically characterizing Aicardi-Goutières syndrome (AGS)-associated SAMHD1 mutations and mutations in the allosteric dGTP-binding site of SAMHD1 for defects in RNase or dNTPase activity, we identify SAMHD1 point mutants that cause loss of one or both functions.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP880399.RAeZwu0Ske161R24ETjpYXW7vJqJRyrPPRC_GoMe141jc130_provenance.