Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP373917.RAKZFgNfZBckZb3vlGaxicvtUdvt-1y3bPoDHpBlQvKM0130_assertion> ?p ?o ?g. }
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- NP373917.RAKZFgNfZBckZb3vlGaxicvtUdvt-1y3bPoDHpBlQvKM0130_assertion type Assertion NP373917.RAKZFgNfZBckZb3vlGaxicvtUdvt-1y3bPoDHpBlQvKM0130_head.
- NP373917.RAKZFgNfZBckZb3vlGaxicvtUdvt-1y3bPoDHpBlQvKM0130_assertion description "[We identified a missense mutation, a valine substitution for glycine at amino acid 193, in the PHKA2 gene of a family with XLG.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP373917.RAKZFgNfZBckZb3vlGaxicvtUdvt-1y3bPoDHpBlQvKM0130_provenance.
- NP373917.RAKZFgNfZBckZb3vlGaxicvtUdvt-1y3bPoDHpBlQvKM0130_assertion evidence source_evidence_literature NP373917.RAKZFgNfZBckZb3vlGaxicvtUdvt-1y3bPoDHpBlQvKM0130_provenance.
- NP373917.RAKZFgNfZBckZb3vlGaxicvtUdvt-1y3bPoDHpBlQvKM0130_assertion SIO_000772 7549948 NP373917.RAKZFgNfZBckZb3vlGaxicvtUdvt-1y3bPoDHpBlQvKM0130_provenance.
- NP373917.RAKZFgNfZBckZb3vlGaxicvtUdvt-1y3bPoDHpBlQvKM0130_assertion wasDerivedFrom befree-20140225 NP373917.RAKZFgNfZBckZb3vlGaxicvtUdvt-1y3bPoDHpBlQvKM0130_provenance.
- NP373917.RAKZFgNfZBckZb3vlGaxicvtUdvt-1y3bPoDHpBlQvKM0130_assertion wasGeneratedBy ECO_0000203 NP373917.RAKZFgNfZBckZb3vlGaxicvtUdvt-1y3bPoDHpBlQvKM0130_provenance.