Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP881233.RA8EDpKS14xHxq3zy2WubsGoIA44gpWBVQEZRsmsWw_pE130_assertion> ?p ?o ?g. }
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- NP881233.RA8EDpKS14xHxq3zy2WubsGoIA44gpWBVQEZRsmsWw_pE130_assertion type Assertion NP881233.RA8EDpKS14xHxq3zy2WubsGoIA44gpWBVQEZRsmsWw_pE130_head.
- NP881233.RA8EDpKS14xHxq3zy2WubsGoIA44gpWBVQEZRsmsWw_pE130_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." NP881233.RA8EDpKS14xHxq3zy2WubsGoIA44gpWBVQEZRsmsWw_pE130_provenance.
- NP881233.RA8EDpKS14xHxq3zy2WubsGoIA44gpWBVQEZRsmsWw_pE130_assertion evidence source_evidence_literature NP881233.RA8EDpKS14xHxq3zy2WubsGoIA44gpWBVQEZRsmsWw_pE130_provenance.
- NP881233.RA8EDpKS14xHxq3zy2WubsGoIA44gpWBVQEZRsmsWw_pE130_assertion SIO_000772 15327960 NP881233.RA8EDpKS14xHxq3zy2WubsGoIA44gpWBVQEZRsmsWw_pE130_provenance.
- NP881233.RA8EDpKS14xHxq3zy2WubsGoIA44gpWBVQEZRsmsWw_pE130_assertion wasDerivedFrom befree-20140225 NP881233.RA8EDpKS14xHxq3zy2WubsGoIA44gpWBVQEZRsmsWw_pE130_provenance.
- NP881233.RA8EDpKS14xHxq3zy2WubsGoIA44gpWBVQEZRsmsWw_pE130_assertion wasGeneratedBy ECO_0000203 NP881233.RA8EDpKS14xHxq3zy2WubsGoIA44gpWBVQEZRsmsWw_pE130_provenance.