Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP787850.RAXm_5sEJgCGY1iMU6mYLo5HsKHAkpxkuSPY1KLYyXcRY130_assertion> ?p ?o ?g. }
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- NP787850.RAXm_5sEJgCGY1iMU6mYLo5HsKHAkpxkuSPY1KLYyXcRY130_assertion type Assertion NP787850.RAXm_5sEJgCGY1iMU6mYLo5HsKHAkpxkuSPY1KLYyXcRY130_head.
- NP787850.RAXm_5sEJgCGY1iMU6mYLo5HsKHAkpxkuSPY1KLYyXcRY130_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." NP787850.RAXm_5sEJgCGY1iMU6mYLo5HsKHAkpxkuSPY1KLYyXcRY130_provenance.
- NP787850.RAXm_5sEJgCGY1iMU6mYLo5HsKHAkpxkuSPY1KLYyXcRY130_assertion evidence source_evidence_literature NP787850.RAXm_5sEJgCGY1iMU6mYLo5HsKHAkpxkuSPY1KLYyXcRY130_provenance.
- NP787850.RAXm_5sEJgCGY1iMU6mYLo5HsKHAkpxkuSPY1KLYyXcRY130_assertion SIO_000772 15327960 NP787850.RAXm_5sEJgCGY1iMU6mYLo5HsKHAkpxkuSPY1KLYyXcRY130_provenance.
- NP787850.RAXm_5sEJgCGY1iMU6mYLo5HsKHAkpxkuSPY1KLYyXcRY130_assertion wasDerivedFrom befree-20140225 NP787850.RAXm_5sEJgCGY1iMU6mYLo5HsKHAkpxkuSPY1KLYyXcRY130_provenance.
- NP787850.RAXm_5sEJgCGY1iMU6mYLo5HsKHAkpxkuSPY1KLYyXcRY130_assertion wasGeneratedBy ECO_0000203 NP787850.RAXm_5sEJgCGY1iMU6mYLo5HsKHAkpxkuSPY1KLYyXcRY130_provenance.