Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP381033.RAx04PTDjUSonm9AC6oTpADfM5ycH3Z_9VldVX3iCXrUk130_assertion> ?p ?o ?g. }
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- NP381033.RAx04PTDjUSonm9AC6oTpADfM5ycH3Z_9VldVX3iCXrUk130_assertion type Assertion NP381033.RAx04PTDjUSonm9AC6oTpADfM5ycH3Z_9VldVX3iCXrUk130_head.
- NP381033.RAx04PTDjUSonm9AC6oTpADfM5ycH3Z_9VldVX3iCXrUk130_assertion description "[The disease marble brain syndrome (MBS), known also as carbonic anhydrase II deficiency syndrome (CADS), can manifest in carriers of point mutations in the human carbonic anhydrase II (HCA II) gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP381033.RAx04PTDjUSonm9AC6oTpADfM5ycH3Z_9VldVX3iCXrUk130_provenance.
- NP381033.RAx04PTDjUSonm9AC6oTpADfM5ycH3Z_9VldVX3iCXrUk130_assertion evidence source_evidence_literature NP381033.RAx04PTDjUSonm9AC6oTpADfM5ycH3Z_9VldVX3iCXrUk130_provenance.
- NP381033.RAx04PTDjUSonm9AC6oTpADfM5ycH3Z_9VldVX3iCXrUk130_assertion SIO_000772 15327960 NP381033.RAx04PTDjUSonm9AC6oTpADfM5ycH3Z_9VldVX3iCXrUk130_provenance.
- NP381033.RAx04PTDjUSonm9AC6oTpADfM5ycH3Z_9VldVX3iCXrUk130_assertion wasDerivedFrom befree-20140225 NP381033.RAx04PTDjUSonm9AC6oTpADfM5ycH3Z_9VldVX3iCXrUk130_provenance.
- NP381033.RAx04PTDjUSonm9AC6oTpADfM5ycH3Z_9VldVX3iCXrUk130_assertion wasGeneratedBy ECO_0000203 NP381033.RAx04PTDjUSonm9AC6oTpADfM5ycH3Z_9VldVX3iCXrUk130_provenance.