Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1130406.RAxmYFIH39DNjSVX_6WR9iz_sLiImhUjA-i0_AGoTVRTM#assertion> ?p ?o ?g. }
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- assertion description "[RAB7 mutations were only found in patients with a Charcot-Marie-Tooth type 2B (CMT2B) phenotype, an axonal sensory-motor neuropathy with pronounced ulcero-mutilations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
- assertion evidence source_evidence_literature provenance.
- assertion SIO_000772 19651702 provenance.
- assertion wasDerivedFrom BEFREE provenance.
- assertion wasGeneratedBy ECO_0000203 provenance.