Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP255605.RArX19El0qxgJ3syeWJVttMFx9uF_BzMrHHO-K2EXx6TU130_assertion> ?p ?o ?g. }
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- NP255605.RArX19El0qxgJ3syeWJVttMFx9uF_BzMrHHO-K2EXx6TU130_assertion type Assertion NP255605.RArX19El0qxgJ3syeWJVttMFx9uF_BzMrHHO-K2EXx6TU130_head.
- NP255605.RArX19El0qxgJ3syeWJVttMFx9uF_BzMrHHO-K2EXx6TU130_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." NP255605.RArX19El0qxgJ3syeWJVttMFx9uF_BzMrHHO-K2EXx6TU130_provenance.
- NP255605.RArX19El0qxgJ3syeWJVttMFx9uF_BzMrHHO-K2EXx6TU130_assertion evidence source_evidence_literature NP255605.RArX19El0qxgJ3syeWJVttMFx9uF_BzMrHHO-K2EXx6TU130_provenance.
- NP255605.RArX19El0qxgJ3syeWJVttMFx9uF_BzMrHHO-K2EXx6TU130_assertion SIO_000772 17215403 NP255605.RArX19El0qxgJ3syeWJVttMFx9uF_BzMrHHO-K2EXx6TU130_provenance.
- NP255605.RArX19El0qxgJ3syeWJVttMFx9uF_BzMrHHO-K2EXx6TU130_assertion wasDerivedFrom befree-20140225 NP255605.RArX19El0qxgJ3syeWJVttMFx9uF_BzMrHHO-K2EXx6TU130_provenance.
- NP255605.RArX19El0qxgJ3syeWJVttMFx9uF_BzMrHHO-K2EXx6TU130_assertion wasGeneratedBy ECO_0000203 NP255605.RArX19El0qxgJ3syeWJVttMFx9uF_BzMrHHO-K2EXx6TU130_provenance.