Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP205147.RAuXBzX0Kvrljdxrhpz_ikJSd6XKXJr9ETP58ru6DQUtY130_assertion> ?p ?o ?g. }
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- NP205147.RAuXBzX0Kvrljdxrhpz_ikJSd6XKXJr9ETP58ru6DQUtY130_assertion type Assertion NP205147.RAuXBzX0Kvrljdxrhpz_ikJSd6XKXJr9ETP58ru6DQUtY130_head.
- NP205147.RAuXBzX0Kvrljdxrhpz_ikJSd6XKXJr9ETP58ru6DQUtY130_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." NP205147.RAuXBzX0Kvrljdxrhpz_ikJSd6XKXJr9ETP58ru6DQUtY130_provenance.
- NP205147.RAuXBzX0Kvrljdxrhpz_ikJSd6XKXJr9ETP58ru6DQUtY130_assertion evidence source_evidence_literature NP205147.RAuXBzX0Kvrljdxrhpz_ikJSd6XKXJr9ETP58ru6DQUtY130_provenance.
- NP205147.RAuXBzX0Kvrljdxrhpz_ikJSd6XKXJr9ETP58ru6DQUtY130_assertion SIO_000772 15159500 NP205147.RAuXBzX0Kvrljdxrhpz_ikJSd6XKXJr9ETP58ru6DQUtY130_provenance.
- NP205147.RAuXBzX0Kvrljdxrhpz_ikJSd6XKXJr9ETP58ru6DQUtY130_assertion wasDerivedFrom lhgdn-20090331 NP205147.RAuXBzX0Kvrljdxrhpz_ikJSd6XKXJr9ETP58ru6DQUtY130_provenance.
- NP205147.RAuXBzX0Kvrljdxrhpz_ikJSd6XKXJr9ETP58ru6DQUtY130_assertion wasGeneratedBy ECO_0000203 NP205147.RAuXBzX0Kvrljdxrhpz_ikJSd6XKXJr9ETP58ru6DQUtY130_provenance.