Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP847369.RAeFxnaNJR1k17XvshAkHG39VfXzsopKl4eb6jzKNXq1I130_assertion> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- NP847369.RAeFxnaNJR1k17XvshAkHG39VfXzsopKl4eb6jzKNXq1I130_assertion type Assertion NP847369.RAeFxnaNJR1k17XvshAkHG39VfXzsopKl4eb6jzKNXq1I130_head.
- 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.