Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1395992.RAmX8yOwoHNA5q6ss0zDlhFj0RxzY0eIGE5y1n4H0vrtE130_assertion> ?p ?o ?g. }
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- NP1395992.RAmX8yOwoHNA5q6ss0zDlhFj0RxzY0eIGE5y1n4H0vrtE130_assertion type Assertion NP1395992.RAmX8yOwoHNA5q6ss0zDlhFj0RxzY0eIGE5y1n4H0vrtE130_head.
- NP1395992.RAmX8yOwoHNA5q6ss0zDlhFj0RxzY0eIGE5y1n4H0vrtE130_assertion description "[Galactosialidosis is a recessively inherited lysosomal storage disease characterized by the combined deficiency of neuraminidase and beta-galactosidase secondary to the genetic deficiency of cathepsin A/protective protein.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1395992.RAmX8yOwoHNA5q6ss0zDlhFj0RxzY0eIGE5y1n4H0vrtE130_provenance.
- NP1395992.RAmX8yOwoHNA5q6ss0zDlhFj0RxzY0eIGE5y1n4H0vrtE130_assertion evidence source_evidence_literature NP1395992.RAmX8yOwoHNA5q6ss0zDlhFj0RxzY0eIGE5y1n4H0vrtE130_provenance.
- NP1395992.RAmX8yOwoHNA5q6ss0zDlhFj0RxzY0eIGE5y1n4H0vrtE130_assertion SIO_000772 9603439 NP1395992.RAmX8yOwoHNA5q6ss0zDlhFj0RxzY0eIGE5y1n4H0vrtE130_provenance.
- NP1395992.RAmX8yOwoHNA5q6ss0zDlhFj0RxzY0eIGE5y1n4H0vrtE130_assertion wasDerivedFrom befree-2016 NP1395992.RAmX8yOwoHNA5q6ss0zDlhFj0RxzY0eIGE5y1n4H0vrtE130_provenance.
- NP1395992.RAmX8yOwoHNA5q6ss0zDlhFj0RxzY0eIGE5y1n4H0vrtE130_assertion wasGeneratedBy ECO_0000203 NP1395992.RAmX8yOwoHNA5q6ss0zDlhFj0RxzY0eIGE5y1n4H0vrtE130_provenance.