Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP457102.RAmFLYKJR6aHr4CHtmkDuL_8ymRez9QPxQn4jOxkrtODk130_assertion> ?p ?o ?g. }
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- NP457102.RAmFLYKJR6aHr4CHtmkDuL_8ymRez9QPxQn4jOxkrtODk130_assertion type Assertion NP457102.RAmFLYKJR6aHr4CHtmkDuL_8ymRez9QPxQn4jOxkrtODk130_head.
- NP457102.RAmFLYKJR6aHr4CHtmkDuL_8ymRez9QPxQn4jOxkrtODk130_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." NP457102.RAmFLYKJR6aHr4CHtmkDuL_8ymRez9QPxQn4jOxkrtODk130_provenance.
- NP457102.RAmFLYKJR6aHr4CHtmkDuL_8ymRez9QPxQn4jOxkrtODk130_assertion evidence source_evidence_literature NP457102.RAmFLYKJR6aHr4CHtmkDuL_8ymRez9QPxQn4jOxkrtODk130_provenance.
- NP457102.RAmFLYKJR6aHr4CHtmkDuL_8ymRez9QPxQn4jOxkrtODk130_assertion SIO_000772 15327960 NP457102.RAmFLYKJR6aHr4CHtmkDuL_8ymRez9QPxQn4jOxkrtODk130_provenance.
- NP457102.RAmFLYKJR6aHr4CHtmkDuL_8ymRez9QPxQn4jOxkrtODk130_assertion wasDerivedFrom befree-2016 NP457102.RAmFLYKJR6aHr4CHtmkDuL_8ymRez9QPxQn4jOxkrtODk130_provenance.
- NP457102.RAmFLYKJR6aHr4CHtmkDuL_8ymRez9QPxQn4jOxkrtODk130_assertion wasGeneratedBy ECO_0000203 NP457102.RAmFLYKJR6aHr4CHtmkDuL_8ymRez9QPxQn4jOxkrtODk130_provenance.