Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP382940.RAWTPA8Y6pKvvWHfFnqBjzCL44jbrG-r0dX0FBdbMv2G8130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP382940.RAWTPA8Y6pKvvWHfFnqBjzCL44jbrG-r0dX0FBdbMv2G8130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP382940.RAWTPA8Y6pKvvWHfFnqBjzCL44jbrG-r0dX0FBdbMv2G8130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP382940.RAWTPA8Y6pKvvWHfFnqBjzCL44jbrG-r0dX0FBdbMv2G8130_provenance.
- NP382940.RAWTPA8Y6pKvvWHfFnqBjzCL44jbrG-r0dX0FBdbMv2G8130_assertion description "[A molecular study has revealed a novel missense mutation, T614I, in exon 17 of SPG4, which may play a role in both focal cortical dysgenesis and neurodegeneration of the motor neurons in the corticospinal tract.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP382940.RAWTPA8Y6pKvvWHfFnqBjzCL44jbrG-r0dX0FBdbMv2G8130_provenance.
- NP382940.RAWTPA8Y6pKvvWHfFnqBjzCL44jbrG-r0dX0FBdbMv2G8130_assertion evidence source_evidence_literature NP382940.RAWTPA8Y6pKvvWHfFnqBjzCL44jbrG-r0dX0FBdbMv2G8130_provenance.
- NP382940.RAWTPA8Y6pKvvWHfFnqBjzCL44jbrG-r0dX0FBdbMv2G8130_assertion SIO_000772 15159500 NP382940.RAWTPA8Y6pKvvWHfFnqBjzCL44jbrG-r0dX0FBdbMv2G8130_provenance.
- NP382940.RAWTPA8Y6pKvvWHfFnqBjzCL44jbrG-r0dX0FBdbMv2G8130_assertion wasDerivedFrom befree-20140225 NP382940.RAWTPA8Y6pKvvWHfFnqBjzCL44jbrG-r0dX0FBdbMv2G8130_provenance.
- NP382940.RAWTPA8Y6pKvvWHfFnqBjzCL44jbrG-r0dX0FBdbMv2G8130_assertion wasGeneratedBy ECO_0000203 NP382940.RAWTPA8Y6pKvvWHfFnqBjzCL44jbrG-r0dX0FBdbMv2G8130_provenance.
- befree-20140225 importedOn "2014-02-25" NP382940.RAWTPA8Y6pKvvWHfFnqBjzCL44jbrG-r0dX0FBdbMv2G8130_provenance.