dgn-np:NP4441.RArRstKn6G-Qa4UTXwkG47mJ_WDyIWcOwMnJpeWlH0JKI130_provenance {
dgn-np:NP4441.RArRstKn6G-Qa4UTXwkG47mJ_WDyIWcOwMnJpeWlH0JKI130_assertion dcterms:description "[We analyzed the effect of the missense mutations G68V, S182G, G227R, F260Y, L270F, A298V, G328S, and L363P, which are identified in the sialidosis type I and sialidosis type II patients, on the activity, stability, and intracellular distribution of sialidase.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en ;
wi:evidence dgn-void:source_evidence_curated ;
sio:SIO_000772 miriam-pubmed:11279074 ;
prov:wasDerivedFrom dgn-void:uniprot-20130724 ;
prov:wasGeneratedBy eco:ECO_0000218 .
dgn-void:source_evidence_curated a eco:ECO_0000205 ;
rdfs:comment "Gene-disease associations manually curated."@en ;
rdfs:label "DisGeNET evidence - CURATED"@en .
dgn-void:uniprot-20130724 pav:importedOn "2013-07-24"^^
xsd:date .
}