Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP195469.RAKtj4_LlVTWXyhI0Xcc01ll4eyRMC0MBTGrM6-lnykeQ130_assertion> ?p ?o ?g. }
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- NP195469.RAKtj4_LlVTWXyhI0Xcc01ll4eyRMC0MBTGrM6-lnykeQ130_assertion type Assertion NP195469.RAKtj4_LlVTWXyhI0Xcc01ll4eyRMC0MBTGrM6-lnykeQ130_head.
- NP195469.RAKtj4_LlVTWXyhI0Xcc01ll4eyRMC0MBTGrM6-lnykeQ130_assertion wasGeneratedBy ECO_0000203 NP195469.RAKtj4_LlVTWXyhI0Xcc01ll4eyRMC0MBTGrM6-lnykeQ130_provenance.
- NP195469.RAKtj4_LlVTWXyhI0Xcc01ll4eyRMC0MBTGrM6-lnykeQ130_assertion wasDerivedFrom lhgdn-20090331 NP195469.RAKtj4_LlVTWXyhI0Xcc01ll4eyRMC0MBTGrM6-lnykeQ130_provenance.
- NP195469.RAKtj4_LlVTWXyhI0Xcc01ll4eyRMC0MBTGrM6-lnykeQ130_assertion SIO_000772 12134148 NP195469.RAKtj4_LlVTWXyhI0Xcc01ll4eyRMC0MBTGrM6-lnykeQ130_provenance.
- NP195469.RAKtj4_LlVTWXyhI0Xcc01ll4eyRMC0MBTGrM6-lnykeQ130_assertion evidence source_evidence_literature NP195469.RAKtj4_LlVTWXyhI0Xcc01ll4eyRMC0MBTGrM6-lnykeQ130_provenance.
- NP195469.RAKtj4_LlVTWXyhI0Xcc01ll4eyRMC0MBTGrM6-lnykeQ130_assertion description "[SPG20 is mutated in Troyer syndrome, an hereditary spastic paraplegia.We report mapping of the TRS locus to chromosome 13q12.3 and identify a frameshift mutation in SPG20, encoding spartin ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP195469.RAKtj4_LlVTWXyhI0Xcc01ll4eyRMC0MBTGrM6-lnykeQ130_provenance.