Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP393275.RAB689pWHpZPjUPSg4BL5ejyMn05xIDR37B87jOcQLSGs130_assertion> ?p ?o ?g. }
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- NP393275.RAB689pWHpZPjUPSg4BL5ejyMn05xIDR37B87jOcQLSGs130_assertion type Assertion NP393275.RAB689pWHpZPjUPSg4BL5ejyMn05xIDR37B87jOcQLSGs130_head.
- NP393275.RAB689pWHpZPjUPSg4BL5ejyMn05xIDR37B87jOcQLSGs130_assertion description "[A mutation (Leu270Pro) in the gene encoding the Wiskott-Aldrich syndrome protein (WASp) resulting in an X-linked SCN kindred has been reported.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP393275.RAB689pWHpZPjUPSg4BL5ejyMn05xIDR37B87jOcQLSGs130_provenance.
- NP393275.RAB689pWHpZPjUPSg4BL5ejyMn05xIDR37B87jOcQLSGs130_assertion evidence source_evidence_literature NP393275.RAB689pWHpZPjUPSg4BL5ejyMn05xIDR37B87jOcQLSGs130_provenance.
- NP393275.RAB689pWHpZPjUPSg4BL5ejyMn05xIDR37B87jOcQLSGs130_assertion SIO_000772 16804117 NP393275.RAB689pWHpZPjUPSg4BL5ejyMn05xIDR37B87jOcQLSGs130_provenance.
- NP393275.RAB689pWHpZPjUPSg4BL5ejyMn05xIDR37B87jOcQLSGs130_assertion wasDerivedFrom befree-20140225 NP393275.RAB689pWHpZPjUPSg4BL5ejyMn05xIDR37B87jOcQLSGs130_provenance.
- NP393275.RAB689pWHpZPjUPSg4BL5ejyMn05xIDR37B87jOcQLSGs130_assertion wasGeneratedBy ECO_0000203 NP393275.RAB689pWHpZPjUPSg4BL5ejyMn05xIDR37B87jOcQLSGs130_provenance.