Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP502061.RAfJ3iw81fnuiFI-fuqgSthacRe9qYxzv9_ULRpWHW5h4130_assertion> ?p ?o ?g. }
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- NP502061.RAfJ3iw81fnuiFI-fuqgSthacRe9qYxzv9_ULRpWHW5h4130_assertion type Assertion NP502061.RAfJ3iw81fnuiFI-fuqgSthacRe9qYxzv9_ULRpWHW5h4130_head.
- NP502061.RAfJ3iw81fnuiFI-fuqgSthacRe9qYxzv9_ULRpWHW5h4130_assertion description "[Mutations in the mitochondrial fusion protein mitofusin 2 (MFN2) are the most commonly identified cause of Charcot-Marie-Tooth type 2 (CMT2), a dominantly inherited disease characterized by degeneration of peripheral sensory and motor axons.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP502061.RAfJ3iw81fnuiFI-fuqgSthacRe9qYxzv9_ULRpWHW5h4130_provenance.
- NP502061.RAfJ3iw81fnuiFI-fuqgSthacRe9qYxzv9_ULRpWHW5h4130_assertion evidence source_evidence_literature NP502061.RAfJ3iw81fnuiFI-fuqgSthacRe9qYxzv9_ULRpWHW5h4130_provenance.
- NP502061.RAfJ3iw81fnuiFI-fuqgSthacRe9qYxzv9_ULRpWHW5h4130_assertion SIO_000772 17215403 NP502061.RAfJ3iw81fnuiFI-fuqgSthacRe9qYxzv9_ULRpWHW5h4130_provenance.
- NP502061.RAfJ3iw81fnuiFI-fuqgSthacRe9qYxzv9_ULRpWHW5h4130_assertion wasDerivedFrom befree-20140225 NP502061.RAfJ3iw81fnuiFI-fuqgSthacRe9qYxzv9_ULRpWHW5h4130_provenance.
- NP502061.RAfJ3iw81fnuiFI-fuqgSthacRe9qYxzv9_ULRpWHW5h4130_assertion wasGeneratedBy ECO_0000203 NP502061.RAfJ3iw81fnuiFI-fuqgSthacRe9qYxzv9_ULRpWHW5h4130_provenance.