Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP153940.RAP4ZWwj4kmsY-b-AHs3k79g3WnaahwWyE19nnVq57d28130_assertion> ?p ?o ?g. }
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- NP153940.RAP4ZWwj4kmsY-b-AHs3k79g3WnaahwWyE19nnVq57d28130_assertion type Assertion NP153940.RAP4ZWwj4kmsY-b-AHs3k79g3WnaahwWyE19nnVq57d28130_head.
- 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.