Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP41828.RA-GpcicetlwGRlDzjYkNVw91SvSAI-1wPbUgsud1W8kI#assertion> ?p ?o ?g. }
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- assertion wasGeneratedBy ECO_0000203 provenance.
- assertion wasDerivedFrom BEFREE provenance.
- assertion SIO_000772 18559907 provenance.
- assertion evidence source_evidence_literature provenance.
- assertion description "[Hypophosphatasia (HPP) is a heritable metabolic disorder of the skeleton that includes variable expressivity conditioned by gene dosage effect and the variety of mutations in the tissue nonspecific alkaline phosphatase (TNSALP) gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.