Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP356.RAZsz01we_7nDACvNBBhJNGvGujN34sXsmO1bhz6M3mYM130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP356.RAZsz01we_7nDACvNBBhJNGvGujN34sXsmO1bhz6M3mYM130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP356.RAZsz01we_7nDACvNBBhJNGvGujN34sXsmO1bhz6M3mYM130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP356.RAZsz01we_7nDACvNBBhJNGvGujN34sXsmO1bhz6M3mYM130_provenance.
- NP356.RAZsz01we_7nDACvNBBhJNGvGujN34sXsmO1bhz6M3mYM130_assertion description "[Hypophosphatasia is characterized by defective bone mineralization associated with impaired activity of the tissue non-specific alkaline phosphatase (TNSALP) due to mutations in the TNSALP gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP356.RAZsz01we_7nDACvNBBhJNGvGujN34sXsmO1bhz6M3mYM130_provenance.
- NP356.RAZsz01we_7nDACvNBBhJNGvGujN34sXsmO1bhz6M3mYM130_assertion evidence source_evidence_curated NP356.RAZsz01we_7nDACvNBBhJNGvGujN34sXsmO1bhz6M3mYM130_provenance.
- NP356.RAZsz01we_7nDACvNBBhJNGvGujN34sXsmO1bhz6M3mYM130_assertion SIO_000772 15135428 NP356.RAZsz01we_7nDACvNBBhJNGvGujN34sXsmO1bhz6M3mYM130_provenance.
- NP356.RAZsz01we_7nDACvNBBhJNGvGujN34sXsmO1bhz6M3mYM130_assertion wasDerivedFrom uniprot-20130724 NP356.RAZsz01we_7nDACvNBBhJNGvGujN34sXsmO1bhz6M3mYM130_provenance.
- NP356.RAZsz01we_7nDACvNBBhJNGvGujN34sXsmO1bhz6M3mYM130_assertion wasGeneratedBy ECO_0000218 NP356.RAZsz01we_7nDACvNBBhJNGvGujN34sXsmO1bhz6M3mYM130_provenance.
- uniprot-20130724 importedOn "2013-07-24" NP356.RAZsz01we_7nDACvNBBhJNGvGujN34sXsmO1bhz6M3mYM130_provenance.