dgn-np:NP206572.RAWEwbG7hZZwu9Obkx3J5GC-ey9yXM0aYX0qg7qe8Vh7w130_provenance {
dgn-np:NP206572.RAWEwbG7hZZwu9Obkx3J5GC-ey9yXM0aYX0qg7qe8Vh7w130_assertion dcterms:description "[In four families (Families 1, 2, 5, 6) with the adult type of hypophosphatasia, inherited as autosomal dominant, the NAP score and TALP (<40 iu/l), were low, <20 and <40 iu/l respectively, in all affected subjects, though the PEA and PLP were not consistently abnormal.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en ;
wi:evidence dgn-void:source_evidence_literature ;
sio:SIO_000772 miriam-pubmed:11074063 ;
prov:wasDerivedFrom dgn-void:befree-20140225 ;
prov:wasGeneratedBy eco:ECO_0000203 .
dgn-void:befree-20140225 pav:importedOn "2014-02-25"^^
xsd:date .
dgn-void:source_evidence_literature a eco:ECO_0000212 ;
rdfs:comment "Gene-disease associations inferred from text-mining the literature."@en ;
rdfs:label "DisGeNET evidence - LITERATURE"@en .
}