Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP41782.RA00UKgAmUBU9izxapD9jo79ut2soQXdKrTcSRt0YaRJY#assertion> ?p ?o ?g. }
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- assertion 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." provenance.
- assertion evidence source_evidence_curated provenance.
- assertion SIO_000772 10094560 provenance.
- assertion wasDerivedFrom UNIPROT provenance.
- assertion wasGeneratedBy ECO_0000218 provenance.