Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP548838.RApxoUH9tlOwYpfBq9icYrliy5bCOFsG9K2CCdq_EjgN4130_assertion> ?p ?o ?g. }
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- NP548838.RApxoUH9tlOwYpfBq9icYrliy5bCOFsG9K2CCdq_EjgN4130_assertion type Assertion NP548838.RApxoUH9tlOwYpfBq9icYrliy5bCOFsG9K2CCdq_EjgN4130_head.
- 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.