Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP548838.RApxoUH9tlOwYpfBq9icYrliy5bCOFsG9K2CCdq_EjgN4130_provenance>. }
Showing items 1 to 9 of
9
with 100 items per page.
- source_evidence_literature type ECO_0000212 NP548838.RApxoUH9tlOwYpfBq9icYrliy5bCOFsG9K2CCdq_EjgN4130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP548838.RApxoUH9tlOwYpfBq9icYrliy5bCOFsG9K2CCdq_EjgN4130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP548838.RApxoUH9tlOwYpfBq9icYrliy5bCOFsG9K2CCdq_EjgN4130_provenance.
- NP548838.RApxoUH9tlOwYpfBq9icYrliy5bCOFsG9K2CCdq_EjgN4130_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." NP548838.RApxoUH9tlOwYpfBq9icYrliy5bCOFsG9K2CCdq_EjgN4130_provenance.
- NP548838.RApxoUH9tlOwYpfBq9icYrliy5bCOFsG9K2CCdq_EjgN4130_assertion evidence source_evidence_literature NP548838.RApxoUH9tlOwYpfBq9icYrliy5bCOFsG9K2CCdq_EjgN4130_provenance.
- NP548838.RApxoUH9tlOwYpfBq9icYrliy5bCOFsG9K2CCdq_EjgN4130_assertion SIO_000772 16684786 NP548838.RApxoUH9tlOwYpfBq9icYrliy5bCOFsG9K2CCdq_EjgN4130_provenance.
- NP548838.RApxoUH9tlOwYpfBq9icYrliy5bCOFsG9K2CCdq_EjgN4130_assertion wasDerivedFrom befree-2016 NP548838.RApxoUH9tlOwYpfBq9icYrliy5bCOFsG9K2CCdq_EjgN4130_provenance.
- NP548838.RApxoUH9tlOwYpfBq9icYrliy5bCOFsG9K2CCdq_EjgN4130_assertion wasGeneratedBy ECO_0000203 NP548838.RApxoUH9tlOwYpfBq9icYrliy5bCOFsG9K2CCdq_EjgN4130_provenance.
- befree-2016 importedOn "2016-02-19" NP548838.RApxoUH9tlOwYpfBq9icYrliy5bCOFsG9K2CCdq_EjgN4130_provenance.