Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP755129.RA1CvXb6H2agRsNZBwFiwHwfx3YTWSMZBPUPynj8ljypE130_assertion> ?p ?o ?g. }
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- NP755129.RA1CvXb6H2agRsNZBwFiwHwfx3YTWSMZBPUPynj8ljypE130_assertion type Assertion NP755129.RA1CvXb6H2agRsNZBwFiwHwfx3YTWSMZBPUPynj8ljypE130_head.
- NP755129.RA1CvXb6H2agRsNZBwFiwHwfx3YTWSMZBPUPynj8ljypE130_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." NP755129.RA1CvXb6H2agRsNZBwFiwHwfx3YTWSMZBPUPynj8ljypE130_provenance.
- NP755129.RA1CvXb6H2agRsNZBwFiwHwfx3YTWSMZBPUPynj8ljypE130_assertion evidence source_evidence_literature NP755129.RA1CvXb6H2agRsNZBwFiwHwfx3YTWSMZBPUPynj8ljypE130_provenance.
- NP755129.RA1CvXb6H2agRsNZBwFiwHwfx3YTWSMZBPUPynj8ljypE130_assertion SIO_000772 19651702 NP755129.RA1CvXb6H2agRsNZBwFiwHwfx3YTWSMZBPUPynj8ljypE130_provenance.
- NP755129.RA1CvXb6H2agRsNZBwFiwHwfx3YTWSMZBPUPynj8ljypE130_assertion wasDerivedFrom befree-2016 NP755129.RA1CvXb6H2agRsNZBwFiwHwfx3YTWSMZBPUPynj8ljypE130_provenance.
- NP755129.RA1CvXb6H2agRsNZBwFiwHwfx3YTWSMZBPUPynj8ljypE130_assertion wasGeneratedBy ECO_0000203 NP755129.RA1CvXb6H2agRsNZBwFiwHwfx3YTWSMZBPUPynj8ljypE130_provenance.