Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP359.RAe78_DLkqdqtchTwvlKnnHv6TpIRjWOA44y0QqsyE7uE130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP359.RAe78_DLkqdqtchTwvlKnnHv6TpIRjWOA44y0QqsyE7uE130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP359.RAe78_DLkqdqtchTwvlKnnHv6TpIRjWOA44y0QqsyE7uE130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP359.RAe78_DLkqdqtchTwvlKnnHv6TpIRjWOA44y0QqsyE7uE130_provenance.
- NP359.RAe78_DLkqdqtchTwvlKnnHv6TpIRjWOA44y0QqsyE7uE130_assertion description "[Perinatal hypophosphatasia: radiology, pathology and molecular biology studies in a family harboring a splicing mutation (648+1A) and a novel missense mutation (N400S) in the tissue-nonspecific alkaline phosphatase (TNSALP) gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP359.RAe78_DLkqdqtchTwvlKnnHv6TpIRjWOA44y0QqsyE7uE130_provenance.
- NP359.RAe78_DLkqdqtchTwvlKnnHv6TpIRjWOA44y0QqsyE7uE130_assertion evidence source_evidence_curated NP359.RAe78_DLkqdqtchTwvlKnnHv6TpIRjWOA44y0QqsyE7uE130_provenance.
- NP359.RAe78_DLkqdqtchTwvlKnnHv6TpIRjWOA44y0QqsyE7uE130_assertion SIO_000772 11745997 NP359.RAe78_DLkqdqtchTwvlKnnHv6TpIRjWOA44y0QqsyE7uE130_provenance.
- NP359.RAe78_DLkqdqtchTwvlKnnHv6TpIRjWOA44y0QqsyE7uE130_assertion wasDerivedFrom uniprot-20130724 NP359.RAe78_DLkqdqtchTwvlKnnHv6TpIRjWOA44y0QqsyE7uE130_provenance.
- NP359.RAe78_DLkqdqtchTwvlKnnHv6TpIRjWOA44y0QqsyE7uE130_assertion wasGeneratedBy ECO_0000218 NP359.RAe78_DLkqdqtchTwvlKnnHv6TpIRjWOA44y0QqsyE7uE130_provenance.
- uniprot-20130724 importedOn "2013-07-24" NP359.RAe78_DLkqdqtchTwvlKnnHv6TpIRjWOA44y0QqsyE7uE130_provenance.