Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1249489.RAZT30Gb0aSwWn23CZzqVId8D_hbH0syZp7Fe04JhDCts130_assertion> ?p ?o ?g. }
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- NP1249489.RAZT30Gb0aSwWn23CZzqVId8D_hbH0syZp7Fe04JhDCts130_assertion type Assertion NP1249489.RAZT30Gb0aSwWn23CZzqVId8D_hbH0syZp7Fe04JhDCts130_head.
- NP1249489.RAZT30Gb0aSwWn23CZzqVId8D_hbH0syZp7Fe04JhDCts130_assertion description "[In a severe lysosomal storage disorder, multiple sulfatase deficiency (MSD), global sulfatase activity is deficient due to mutations in the sulfatase-modifying factor 1 (SUMF1) gene, encoding the essential activator of all sulfatases.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1249489.RAZT30Gb0aSwWn23CZzqVId8D_hbH0syZp7Fe04JhDCts130_provenance.
- NP1249489.RAZT30Gb0aSwWn23CZzqVId8D_hbH0syZp7Fe04JhDCts130_assertion evidence source_evidence_literature NP1249489.RAZT30Gb0aSwWn23CZzqVId8D_hbH0syZp7Fe04JhDCts130_provenance.
- NP1249489.RAZT30Gb0aSwWn23CZzqVId8D_hbH0syZp7Fe04JhDCts130_assertion SIO_000772 25524633 NP1249489.RAZT30Gb0aSwWn23CZzqVId8D_hbH0syZp7Fe04JhDCts130_provenance.
- NP1249489.RAZT30Gb0aSwWn23CZzqVId8D_hbH0syZp7Fe04JhDCts130_assertion wasDerivedFrom befree-2016 NP1249489.RAZT30Gb0aSwWn23CZzqVId8D_hbH0syZp7Fe04JhDCts130_provenance.
- NP1249489.RAZT30Gb0aSwWn23CZzqVId8D_hbH0syZp7Fe04JhDCts130_assertion wasGeneratedBy ECO_0000203 NP1249489.RAZT30Gb0aSwWn23CZzqVId8D_hbH0syZp7Fe04JhDCts130_provenance.