Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP710157.RAB12EgomtJIBO3_AXTZRVzNEBGJmhC_YBSmf_PxQyPxM130_assertion> ?p ?o ?g. }
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- NP710157.RAB12EgomtJIBO3_AXTZRVzNEBGJmhC_YBSmf_PxQyPxM130_assertion type Assertion NP710157.RAB12EgomtJIBO3_AXTZRVzNEBGJmhC_YBSmf_PxQyPxM130_head.
- NP710157.RAB12EgomtJIBO3_AXTZRVzNEBGJmhC_YBSmf_PxQyPxM130_assertion wasGeneratedBy ECO_0000203 NP710157.RAB12EgomtJIBO3_AXTZRVzNEBGJmhC_YBSmf_PxQyPxM130_provenance.
- NP710157.RAB12EgomtJIBO3_AXTZRVzNEBGJmhC_YBSmf_PxQyPxM130_assertion wasDerivedFrom befree-20150227 NP710157.RAB12EgomtJIBO3_AXTZRVzNEBGJmhC_YBSmf_PxQyPxM130_provenance.
- NP710157.RAB12EgomtJIBO3_AXTZRVzNEBGJmhC_YBSmf_PxQyPxM130_assertion SIO_000772 22964162 NP710157.RAB12EgomtJIBO3_AXTZRVzNEBGJmhC_YBSmf_PxQyPxM130_provenance.
- NP710157.RAB12EgomtJIBO3_AXTZRVzNEBGJmhC_YBSmf_PxQyPxM130_assertion evidence source_evidence_literature NP710157.RAB12EgomtJIBO3_AXTZRVzNEBGJmhC_YBSmf_PxQyPxM130_provenance.
- NP710157.RAB12EgomtJIBO3_AXTZRVzNEBGJmhC_YBSmf_PxQyPxM130_assertion description "[An overlapping phenotypic presentation with its biological counterpart AFG3L2, which when mutated causes spinocerebellar ataxia type 28, is apparent and possibly suggests that abnormal levels of the SPG7 protein impact the function of the mitochondrial ATPases associated with diverse cellular activities-protease complex (formed by SPG7 and AFG3L2) in the cerebellum.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP710157.RAB12EgomtJIBO3_AXTZRVzNEBGJmhC_YBSmf_PxQyPxM130_provenance.