Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP643261.RAdBglLUuDTyyuBTz57T7C0JmSXutm4DfBURfsI8OovoY130_assertion> ?p ?o ?g. }
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- NP643261.RAdBglLUuDTyyuBTz57T7C0JmSXutm4DfBURfsI8OovoY130_assertion type Assertion NP643261.RAdBglLUuDTyyuBTz57T7C0JmSXutm4DfBURfsI8OovoY130_head.
- NP643261.RAdBglLUuDTyyuBTz57T7C0JmSXutm4DfBURfsI8OovoY130_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." NP643261.RAdBglLUuDTyyuBTz57T7C0JmSXutm4DfBURfsI8OovoY130_provenance.
- NP643261.RAdBglLUuDTyyuBTz57T7C0JmSXutm4DfBURfsI8OovoY130_assertion evidence source_evidence_literature NP643261.RAdBglLUuDTyyuBTz57T7C0JmSXutm4DfBURfsI8OovoY130_provenance.
- NP643261.RAdBglLUuDTyyuBTz57T7C0JmSXutm4DfBURfsI8OovoY130_assertion SIO_000772 15327960 NP643261.RAdBglLUuDTyyuBTz57T7C0JmSXutm4DfBURfsI8OovoY130_provenance.
- NP643261.RAdBglLUuDTyyuBTz57T7C0JmSXutm4DfBURfsI8OovoY130_assertion wasDerivedFrom befree-20140225 NP643261.RAdBglLUuDTyyuBTz57T7C0JmSXutm4DfBURfsI8OovoY130_provenance.
- NP643261.RAdBglLUuDTyyuBTz57T7C0JmSXutm4DfBURfsI8OovoY130_assertion wasGeneratedBy ECO_0000203 NP643261.RAdBglLUuDTyyuBTz57T7C0JmSXutm4DfBURfsI8OovoY130_provenance.