Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP153940.RAP4ZWwj4kmsY-b-AHs3k79g3WnaahwWyE19nnVq57d28130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP153940.RAP4ZWwj4kmsY-b-AHs3k79g3WnaahwWyE19nnVq57d28130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP153940.RAP4ZWwj4kmsY-b-AHs3k79g3WnaahwWyE19nnVq57d28130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP153940.RAP4ZWwj4kmsY-b-AHs3k79g3WnaahwWyE19nnVq57d28130_provenance.
- NP153940.RAP4ZWwj4kmsY-b-AHs3k79g3WnaahwWyE19nnVq57d28130_assertion description "[A variant form of hereditary spastic paraplegia & congenital arachnoid cysts has an new autosomal dominant mutation, T614I, in exon 17 of SPG4/may play a role in both focal cortical dysgenesis & corticospinal motoneuron neurodegeneration.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP153940.RAP4ZWwj4kmsY-b-AHs3k79g3WnaahwWyE19nnVq57d28130_provenance.
- NP153940.RAP4ZWwj4kmsY-b-AHs3k79g3WnaahwWyE19nnVq57d28130_assertion evidence source_evidence_literature NP153940.RAP4ZWwj4kmsY-b-AHs3k79g3WnaahwWyE19nnVq57d28130_provenance.
- NP153940.RAP4ZWwj4kmsY-b-AHs3k79g3WnaahwWyE19nnVq57d28130_assertion SIO_000772 15159500 NP153940.RAP4ZWwj4kmsY-b-AHs3k79g3WnaahwWyE19nnVq57d28130_provenance.
- NP153940.RAP4ZWwj4kmsY-b-AHs3k79g3WnaahwWyE19nnVq57d28130_assertion wasDerivedFrom lhgdn-20090331 NP153940.RAP4ZWwj4kmsY-b-AHs3k79g3WnaahwWyE19nnVq57d28130_provenance.
- NP153940.RAP4ZWwj4kmsY-b-AHs3k79g3WnaahwWyE19nnVq57d28130_assertion wasGeneratedBy ECO_0000203 NP153940.RAP4ZWwj4kmsY-b-AHs3k79g3WnaahwWyE19nnVq57d28130_provenance.
- lhgdn-20090331 importedOn "2009-03-31" NP153940.RAP4ZWwj4kmsY-b-AHs3k79g3WnaahwWyE19nnVq57d28130_provenance.