Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP2020.RAtsQLI5AYMwp43_CwdE1aip8y_sWnftLCF5gyQXf92Xk130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP2020.RAtsQLI5AYMwp43_CwdE1aip8y_sWnftLCF5gyQXf92Xk130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP2020.RAtsQLI5AYMwp43_CwdE1aip8y_sWnftLCF5gyQXf92Xk130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP2020.RAtsQLI5AYMwp43_CwdE1aip8y_sWnftLCF5gyQXf92Xk130_provenance.
- NP2020.RAtsQLI5AYMwp43_CwdE1aip8y_sWnftLCF5gyQXf92Xk130_assertion description "[Glu274Lys/Gly309Arg mutation of the tissue-nonspecific alkaline phosphatase gene in neonatal hypophosphatasia associated with convulsions.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2020.RAtsQLI5AYMwp43_CwdE1aip8y_sWnftLCF5gyQXf92Xk130_provenance.
- NP2020.RAtsQLI5AYMwp43_CwdE1aip8y_sWnftLCF5gyQXf92Xk130_assertion evidence source_evidence_curated NP2020.RAtsQLI5AYMwp43_CwdE1aip8y_sWnftLCF5gyQXf92Xk130_provenance.
- NP2020.RAtsQLI5AYMwp43_CwdE1aip8y_sWnftLCF5gyQXf92Xk130_assertion SIO_000772 11999978 NP2020.RAtsQLI5AYMwp43_CwdE1aip8y_sWnftLCF5gyQXf92Xk130_provenance.
- NP2020.RAtsQLI5AYMwp43_CwdE1aip8y_sWnftLCF5gyQXf92Xk130_assertion wasDerivedFrom uniprot-2016 NP2020.RAtsQLI5AYMwp43_CwdE1aip8y_sWnftLCF5gyQXf92Xk130_provenance.
- NP2020.RAtsQLI5AYMwp43_CwdE1aip8y_sWnftLCF5gyQXf92Xk130_assertion wasGeneratedBy ECO_0000218 NP2020.RAtsQLI5AYMwp43_CwdE1aip8y_sWnftLCF5gyQXf92Xk130_provenance.
- uniprot-2016 importedOn "2016-01-25" NP2020.RAtsQLI5AYMwp43_CwdE1aip8y_sWnftLCF5gyQXf92Xk130_provenance.