Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP39.RAdyA7Ve805TE4WyAnO_fDllXvGIpid1yrADx9Cpt3W8U130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP39.RAdyA7Ve805TE4WyAnO_fDllXvGIpid1yrADx9Cpt3W8U130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP39.RAdyA7Ve805TE4WyAnO_fDllXvGIpid1yrADx9Cpt3W8U130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP39.RAdyA7Ve805TE4WyAnO_fDllXvGIpid1yrADx9Cpt3W8U130_provenance.
- uniprot-20150221 importedOn "2015-02-21" NP39.RAdyA7Ve805TE4WyAnO_fDllXvGIpid1yrADx9Cpt3W8U130_provenance.
- NP39.RAdyA7Ve805TE4WyAnO_fDllXvGIpid1yrADx9Cpt3W8U130_assertion wasGeneratedBy ECO_0000218 NP39.RAdyA7Ve805TE4WyAnO_fDllXvGIpid1yrADx9Cpt3W8U130_provenance.
- NP39.RAdyA7Ve805TE4WyAnO_fDllXvGIpid1yrADx9Cpt3W8U130_assertion wasDerivedFrom uniprot-20150221 NP39.RAdyA7Ve805TE4WyAnO_fDllXvGIpid1yrADx9Cpt3W8U130_provenance.
- NP39.RAdyA7Ve805TE4WyAnO_fDllXvGIpid1yrADx9Cpt3W8U130_assertion SIO_000772 24136356 NP39.RAdyA7Ve805TE4WyAnO_fDllXvGIpid1yrADx9Cpt3W8U130_provenance.
- NP39.RAdyA7Ve805TE4WyAnO_fDllXvGIpid1yrADx9Cpt3W8U130_assertion evidence source_evidence_curated NP39.RAdyA7Ve805TE4WyAnO_fDllXvGIpid1yrADx9Cpt3W8U130_provenance.
- NP39.RAdyA7Ve805TE4WyAnO_fDllXvGIpid1yrADx9Cpt3W8U130_assertion description "[Here, we describe activated PI3K-I' syndrome (APDS), a PID associated with a dominant gain-of-function mutation in which lysine replaced glutamic acid at residue 1021 (E1021K) in the p110I' protein, the catalytic subunit of phosphoinositide 3-kinase I' (PI3KI'), encoded by the PIK3CD gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP39.RAdyA7Ve805TE4WyAnO_fDllXvGIpid1yrADx9Cpt3W8U130_provenance.