Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP481414.RAJXzVfSs4V8zACHh9O7cBRe1ZAMmMBdRNofiGVXbHiiU130_assertion> ?p ?o ?g. }
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- NP481414.RAJXzVfSs4V8zACHh9O7cBRe1ZAMmMBdRNofiGVXbHiiU130_assertion type Assertion NP481414.RAJXzVfSs4V8zACHh9O7cBRe1ZAMmMBdRNofiGVXbHiiU130_head.
- NP481414.RAJXzVfSs4V8zACHh9O7cBRe1ZAMmMBdRNofiGVXbHiiU130_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." NP481414.RAJXzVfSs4V8zACHh9O7cBRe1ZAMmMBdRNofiGVXbHiiU130_provenance.
- NP481414.RAJXzVfSs4V8zACHh9O7cBRe1ZAMmMBdRNofiGVXbHiiU130_assertion evidence source_evidence_literature NP481414.RAJXzVfSs4V8zACHh9O7cBRe1ZAMmMBdRNofiGVXbHiiU130_provenance.
- NP481414.RAJXzVfSs4V8zACHh9O7cBRe1ZAMmMBdRNofiGVXbHiiU130_assertion SIO_000772 16684786 NP481414.RAJXzVfSs4V8zACHh9O7cBRe1ZAMmMBdRNofiGVXbHiiU130_provenance.
- NP481414.RAJXzVfSs4V8zACHh9O7cBRe1ZAMmMBdRNofiGVXbHiiU130_assertion wasDerivedFrom befree-20140225 NP481414.RAJXzVfSs4V8zACHh9O7cBRe1ZAMmMBdRNofiGVXbHiiU130_provenance.
- NP481414.RAJXzVfSs4V8zACHh9O7cBRe1ZAMmMBdRNofiGVXbHiiU130_assertion wasGeneratedBy ECO_0000203 NP481414.RAJXzVfSs4V8zACHh9O7cBRe1ZAMmMBdRNofiGVXbHiiU130_provenance.