Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP1097.RAmTEdZZsaPAMc7qykUpUAT-N9n3MISW1DDaV7o3DQH40130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP1097.RAmTEdZZsaPAMc7qykUpUAT-N9n3MISW1DDaV7o3DQH40130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP1097.RAmTEdZZsaPAMc7qykUpUAT-N9n3MISW1DDaV7o3DQH40130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP1097.RAmTEdZZsaPAMc7qykUpUAT-N9n3MISW1DDaV7o3DQH40130_provenance.
- NP1097.RAmTEdZZsaPAMc7qykUpUAT-N9n3MISW1DDaV7o3DQH40130_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." NP1097.RAmTEdZZsaPAMc7qykUpUAT-N9n3MISW1DDaV7o3DQH40130_provenance.
- NP1097.RAmTEdZZsaPAMc7qykUpUAT-N9n3MISW1DDaV7o3DQH40130_assertion evidence source_evidence_curated NP1097.RAmTEdZZsaPAMc7qykUpUAT-N9n3MISW1DDaV7o3DQH40130_provenance.
- NP1097.RAmTEdZZsaPAMc7qykUpUAT-N9n3MISW1DDaV7o3DQH40130_assertion SIO_000772 11745997 NP1097.RAmTEdZZsaPAMc7qykUpUAT-N9n3MISW1DDaV7o3DQH40130_provenance.
- NP1097.RAmTEdZZsaPAMc7qykUpUAT-N9n3MISW1DDaV7o3DQH40130_assertion wasDerivedFrom uniprot-20150221 NP1097.RAmTEdZZsaPAMc7qykUpUAT-N9n3MISW1DDaV7o3DQH40130_provenance.
- NP1097.RAmTEdZZsaPAMc7qykUpUAT-N9n3MISW1DDaV7o3DQH40130_assertion wasGeneratedBy ECO_0000218 NP1097.RAmTEdZZsaPAMc7qykUpUAT-N9n3MISW1DDaV7o3DQH40130_provenance.
- uniprot-20150221 importedOn "2015-02-21" NP1097.RAmTEdZZsaPAMc7qykUpUAT-N9n3MISW1DDaV7o3DQH40130_provenance.