Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP1755.RAQ16-fTMOes5hWBJrqfhlol85alMbuPeIa6-rcdQlBUc130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP1755.RAQ16-fTMOes5hWBJrqfhlol85alMbuPeIa6-rcdQlBUc130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP1755.RAQ16-fTMOes5hWBJrqfhlol85alMbuPeIa6-rcdQlBUc130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP1755.RAQ16-fTMOes5hWBJrqfhlol85alMbuPeIa6-rcdQlBUc130_provenance.
- NP1755.RAQ16-fTMOes5hWBJrqfhlol85alMbuPeIa6-rcdQlBUc130_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." NP1755.RAQ16-fTMOes5hWBJrqfhlol85alMbuPeIa6-rcdQlBUc130_provenance.
- NP1755.RAQ16-fTMOes5hWBJrqfhlol85alMbuPeIa6-rcdQlBUc130_assertion evidence source_evidence_curated NP1755.RAQ16-fTMOes5hWBJrqfhlol85alMbuPeIa6-rcdQlBUc130_provenance.
- NP1755.RAQ16-fTMOes5hWBJrqfhlol85alMbuPeIa6-rcdQlBUc130_assertion SIO_000772 11745997 NP1755.RAQ16-fTMOes5hWBJrqfhlol85alMbuPeIa6-rcdQlBUc130_provenance.
- NP1755.RAQ16-fTMOes5hWBJrqfhlol85alMbuPeIa6-rcdQlBUc130_assertion wasDerivedFrom uniprot-2016 NP1755.RAQ16-fTMOes5hWBJrqfhlol85alMbuPeIa6-rcdQlBUc130_provenance.
- NP1755.RAQ16-fTMOes5hWBJrqfhlol85alMbuPeIa6-rcdQlBUc130_assertion wasGeneratedBy ECO_0000218 NP1755.RAQ16-fTMOes5hWBJrqfhlol85alMbuPeIa6-rcdQlBUc130_provenance.
- uniprot-2016 importedOn "2016-01-25" NP1755.RAQ16-fTMOes5hWBJrqfhlol85alMbuPeIa6-rcdQlBUc130_provenance.