Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP383954.RAVVVZmVFqgq5G_J8iVZB1fwk0J9APoV3ycKy2Pjh9nMw130_assertion> ?p ?o ?g. }
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- NP383954.RAVVVZmVFqgq5G_J8iVZB1fwk0J9APoV3ycKy2Pjh9nMw130_assertion type Assertion NP383954.RAVVVZmVFqgq5G_J8iVZB1fwk0J9APoV3ycKy2Pjh9nMw130_head.
- NP383954.RAVVVZmVFqgq5G_J8iVZB1fwk0J9APoV3ycKy2Pjh9nMw130_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." NP383954.RAVVVZmVFqgq5G_J8iVZB1fwk0J9APoV3ycKy2Pjh9nMw130_provenance.
- NP383954.RAVVVZmVFqgq5G_J8iVZB1fwk0J9APoV3ycKy2Pjh9nMw130_assertion evidence source_evidence_literature NP383954.RAVVVZmVFqgq5G_J8iVZB1fwk0J9APoV3ycKy2Pjh9nMw130_provenance.
- NP383954.RAVVVZmVFqgq5G_J8iVZB1fwk0J9APoV3ycKy2Pjh9nMw130_assertion SIO_000772 17215403 NP383954.RAVVVZmVFqgq5G_J8iVZB1fwk0J9APoV3ycKy2Pjh9nMw130_provenance.
- NP383954.RAVVVZmVFqgq5G_J8iVZB1fwk0J9APoV3ycKy2Pjh9nMw130_assertion wasDerivedFrom befree-20140225 NP383954.RAVVVZmVFqgq5G_J8iVZB1fwk0J9APoV3ycKy2Pjh9nMw130_provenance.
- NP383954.RAVVVZmVFqgq5G_J8iVZB1fwk0J9APoV3ycKy2Pjh9nMw130_assertion wasGeneratedBy ECO_0000203 NP383954.RAVVVZmVFqgq5G_J8iVZB1fwk0J9APoV3ycKy2Pjh9nMw130_provenance.