dgn-np:NP73.RAeEGnSRMDnlAFW5ovdnMpoJBoqaWQDg189z6CHjIE-I4130_provenance {
dgn-np:NP73.RAeEGnSRMDnlAFW5ovdnMpoJBoqaWQDg189z6CHjIE-I4130_assertion dcterms:description "[Characterization of eleven novel mutations (M45L, R119H, 544delG, G145V, H154Y, C184Y, D289V, 862+5A, 1172delC, R411X, E459K) in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in patients with severe hypophosphatasia. Mutations in brief no. 217. Online.]. 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:10094560 ;
prov:wasDerivedFrom dgn-void:uniprot-2016 ;
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-2016 pav:importedOn "2016-01-25"^^
xsd:date .
}