Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP847369.RAeFxnaNJR1k17XvshAkHG39VfXzsopKl4eb6jzKNXq1I130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP847369.RAeFxnaNJR1k17XvshAkHG39VfXzsopKl4eb6jzKNXq1I130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP847369.RAeFxnaNJR1k17XvshAkHG39VfXzsopKl4eb6jzKNXq1I130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP847369.RAeFxnaNJR1k17XvshAkHG39VfXzsopKl4eb6jzKNXq1I130_provenance.
- NP847369.RAeFxnaNJR1k17XvshAkHG39VfXzsopKl4eb6jzKNXq1I130_assertion description "[A rare, recessive form of bilateral PNH with microcephaly and severe delay is associated with mutations of the ADP-ribosylation factor guanine nucleotide-exchange factor-2 (ARFGEF2) gene, required for vesicle and membrane trafficking from the trans-Golgi.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP847369.RAeFxnaNJR1k17XvshAkHG39VfXzsopKl4eb6jzKNXq1I130_provenance.
- NP847369.RAeFxnaNJR1k17XvshAkHG39VfXzsopKl4eb6jzKNXq1I130_assertion evidence source_evidence_literature NP847369.RAeFxnaNJR1k17XvshAkHG39VfXzsopKl4eb6jzKNXq1I130_provenance.
- NP847369.RAeFxnaNJR1k17XvshAkHG39VfXzsopKl4eb6jzKNXq1I130_assertion SIO_000772 16684786 NP847369.RAeFxnaNJR1k17XvshAkHG39VfXzsopKl4eb6jzKNXq1I130_provenance.
- NP847369.RAeFxnaNJR1k17XvshAkHG39VfXzsopKl4eb6jzKNXq1I130_assertion wasDerivedFrom befree-20150227 NP847369.RAeFxnaNJR1k17XvshAkHG39VfXzsopKl4eb6jzKNXq1I130_provenance.
- NP847369.RAeFxnaNJR1k17XvshAkHG39VfXzsopKl4eb6jzKNXq1I130_assertion wasGeneratedBy ECO_0000203 NP847369.RAeFxnaNJR1k17XvshAkHG39VfXzsopKl4eb6jzKNXq1I130_provenance.
- befree-20150227 importedOn "2015-02-27" NP847369.RAeFxnaNJR1k17XvshAkHG39VfXzsopKl4eb6jzKNXq1I130_provenance.