dgn-np:NP1100.RAcAlJ3nmGdS5fC6thrFwS9sFPf1R1D8c71bD_vr07Dw0130_provenance {
dgn-np:NP1100.RAcAlJ3nmGdS5fC6thrFwS9sFPf1R1D8c71bD_vr07Dw0130_assertion dc:description "[Fifteen new mutations (-195C>T, L-12X, 298-2A>G, T117N, A159T, R229S, 997+2T>A, E274X, A331T, H364R, D389G, 1256delC, R433H, N461I, C472S) in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in patients with hypophosphatasia.]. 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:10679946 ;
prov:wasDerivedFrom dgn-void:uniprot-20150221 ;
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-20150221 pav:importedOn "2015-02-21"^^
xsd:date .
}