Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP41787.RASMii7D8HDQtOz7RZIw-xGdqmiHqc3eCCEJj16-v9F-o#assertion> ?p ?o ?g. }
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- assertion description "[Mild hypophosphatasia (HPP) phenotype may result from ALPL gene mutations exhibiting residual alkaline phosphatase activity or from severe heterozygous mutations exhibiting a dominant negative effect.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
- assertion evidence source_evidence_literature provenance.
- assertion SIO_000772 19500388 provenance.
- assertion wasDerivedFrom BEFREE provenance.
- assertion wasGeneratedBy ECO_0000203 provenance.