Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP764652.RAa08ZBCxHrmoFtIA32gQPxnCQtM4mkvtYw0P-rBE6F2M130_assertion> ?p ?o ?g. }
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- NP764652.RAa08ZBCxHrmoFtIA32gQPxnCQtM4mkvtYw0P-rBE6F2M130_assertion type Assertion NP764652.RAa08ZBCxHrmoFtIA32gQPxnCQtM4mkvtYw0P-rBE6F2M130_head.
- NP764652.RAa08ZBCxHrmoFtIA32gQPxnCQtM4mkvtYw0P-rBE6F2M130_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." NP764652.RAa08ZBCxHrmoFtIA32gQPxnCQtM4mkvtYw0P-rBE6F2M130_provenance.
- NP764652.RAa08ZBCxHrmoFtIA32gQPxnCQtM4mkvtYw0P-rBE6F2M130_assertion evidence source_evidence_literature NP764652.RAa08ZBCxHrmoFtIA32gQPxnCQtM4mkvtYw0P-rBE6F2M130_provenance.
- NP764652.RAa08ZBCxHrmoFtIA32gQPxnCQtM4mkvtYw0P-rBE6F2M130_assertion SIO_000772 15327960 NP764652.RAa08ZBCxHrmoFtIA32gQPxnCQtM4mkvtYw0P-rBE6F2M130_provenance.
- NP764652.RAa08ZBCxHrmoFtIA32gQPxnCQtM4mkvtYw0P-rBE6F2M130_assertion wasDerivedFrom befree-20140225 NP764652.RAa08ZBCxHrmoFtIA32gQPxnCQtM4mkvtYw0P-rBE6F2M130_provenance.
- NP764652.RAa08ZBCxHrmoFtIA32gQPxnCQtM4mkvtYw0P-rBE6F2M130_assertion wasGeneratedBy ECO_0000203 NP764652.RAa08ZBCxHrmoFtIA32gQPxnCQtM4mkvtYw0P-rBE6F2M130_provenance.