Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1200146.RAi9tpt70MNNEcOf9l8d8peCUXOesxRaCjJTWcen7QoWo#assertion> ?p ?o ?g. }
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- assertion description "[Mutations in the gene mitofusin 2 (MFN2) cause the axonal subtype CMT2A, which has also been shown to be associated with optic atrophy, clinical signs of first motor neuron involvement, and early onset stroke.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
- assertion evidence source_evidence_literature provenance.
- assertion SIO_000772 21258814 provenance.
- assertion wasDerivedFrom BEFREE provenance.
- assertion wasGeneratedBy ECO_0000203 provenance.