Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP162479.RACbN7yNYJOAlcuMaMDPxCe-y34EHpT7vMdNd7grpRkZg130_assertion> ?p ?o ?g. }
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- NP162479.RACbN7yNYJOAlcuMaMDPxCe-y34EHpT7vMdNd7grpRkZg130_assertion type Assertion NP162479.RACbN7yNYJOAlcuMaMDPxCe-y34EHpT7vMdNd7grpRkZg130_head.
- NP162479.RACbN7yNYJOAlcuMaMDPxCe-y34EHpT7vMdNd7grpRkZg130_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." NP162479.RACbN7yNYJOAlcuMaMDPxCe-y34EHpT7vMdNd7grpRkZg130_provenance.
- NP162479.RACbN7yNYJOAlcuMaMDPxCe-y34EHpT7vMdNd7grpRkZg130_assertion evidence source_evidence_literature NP162479.RACbN7yNYJOAlcuMaMDPxCe-y34EHpT7vMdNd7grpRkZg130_provenance.
- NP162479.RACbN7yNYJOAlcuMaMDPxCe-y34EHpT7vMdNd7grpRkZg130_assertion SIO_000772 15327960 NP162479.RACbN7yNYJOAlcuMaMDPxCe-y34EHpT7vMdNd7grpRkZg130_provenance.
- NP162479.RACbN7yNYJOAlcuMaMDPxCe-y34EHpT7vMdNd7grpRkZg130_assertion wasDerivedFrom befree-20140225 NP162479.RACbN7yNYJOAlcuMaMDPxCe-y34EHpT7vMdNd7grpRkZg130_provenance.
- NP162479.RACbN7yNYJOAlcuMaMDPxCe-y34EHpT7vMdNd7grpRkZg130_assertion wasGeneratedBy ECO_0000203 NP162479.RACbN7yNYJOAlcuMaMDPxCe-y34EHpT7vMdNd7grpRkZg130_provenance.