Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP888535.RAKrJ6Di0A4dCrNJSfoqI43BQeZeLA-9hyyxF_BKt7myc130_assertion> ?p ?o ?g. }
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- NP888535.RAKrJ6Di0A4dCrNJSfoqI43BQeZeLA-9hyyxF_BKt7myc130_assertion type Assertion NP888535.RAKrJ6Di0A4dCrNJSfoqI43BQeZeLA-9hyyxF_BKt7myc130_head.
- NP888535.RAKrJ6Di0A4dCrNJSfoqI43BQeZeLA-9hyyxF_BKt7myc130_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." NP888535.RAKrJ6Di0A4dCrNJSfoqI43BQeZeLA-9hyyxF_BKt7myc130_provenance.
- NP888535.RAKrJ6Di0A4dCrNJSfoqI43BQeZeLA-9hyyxF_BKt7myc130_assertion evidence source_evidence_literature NP888535.RAKrJ6Di0A4dCrNJSfoqI43BQeZeLA-9hyyxF_BKt7myc130_provenance.
- NP888535.RAKrJ6Di0A4dCrNJSfoqI43BQeZeLA-9hyyxF_BKt7myc130_assertion SIO_000772 15327960 NP888535.RAKrJ6Di0A4dCrNJSfoqI43BQeZeLA-9hyyxF_BKt7myc130_provenance.
- NP888535.RAKrJ6Di0A4dCrNJSfoqI43BQeZeLA-9hyyxF_BKt7myc130_assertion wasDerivedFrom befree-20140225 NP888535.RAKrJ6Di0A4dCrNJSfoqI43BQeZeLA-9hyyxF_BKt7myc130_provenance.
- NP888535.RAKrJ6Di0A4dCrNJSfoqI43BQeZeLA-9hyyxF_BKt7myc130_assertion wasGeneratedBy ECO_0000203 NP888535.RAKrJ6Di0A4dCrNJSfoqI43BQeZeLA-9hyyxF_BKt7myc130_provenance.