Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP743563.RASvHMfAp6qPIYahdOBCIZG6zwWxbGFZwBeTUpWjFrPHc130_provenance>. }
Showing items 1 to 9 of
9
with 100 items per page.
- source_evidence_literature type ECO_0000212 NP743563.RASvHMfAp6qPIYahdOBCIZG6zwWxbGFZwBeTUpWjFrPHc130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP743563.RASvHMfAp6qPIYahdOBCIZG6zwWxbGFZwBeTUpWjFrPHc130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP743563.RASvHMfAp6qPIYahdOBCIZG6zwWxbGFZwBeTUpWjFrPHc130_provenance.
- NP743563.RASvHMfAp6qPIYahdOBCIZG6zwWxbGFZwBeTUpWjFrPHc130_assertion description "[We conclude that dynamin 2 mutations should be screened in the autosomal dominant Charcot-Marie-Tooth neuropathy families with intermediate or axonal NCV, and in patients with a classical mild to moderately severe Charcot-Marie-Tooth phenotype, especially when Charcot-Marie-Tooth is associated with neutropaenia or cataracts.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP743563.RASvHMfAp6qPIYahdOBCIZG6zwWxbGFZwBeTUpWjFrPHc130_provenance.
- NP743563.RASvHMfAp6qPIYahdOBCIZG6zwWxbGFZwBeTUpWjFrPHc130_assertion evidence source_evidence_literature NP743563.RASvHMfAp6qPIYahdOBCIZG6zwWxbGFZwBeTUpWjFrPHc130_provenance.
- NP743563.RASvHMfAp6qPIYahdOBCIZG6zwWxbGFZwBeTUpWjFrPHc130_assertion SIO_000772 19502294 NP743563.RASvHMfAp6qPIYahdOBCIZG6zwWxbGFZwBeTUpWjFrPHc130_provenance.
- NP743563.RASvHMfAp6qPIYahdOBCIZG6zwWxbGFZwBeTUpWjFrPHc130_assertion wasDerivedFrom befree-2016 NP743563.RASvHMfAp6qPIYahdOBCIZG6zwWxbGFZwBeTUpWjFrPHc130_provenance.
- NP743563.RASvHMfAp6qPIYahdOBCIZG6zwWxbGFZwBeTUpWjFrPHc130_assertion wasGeneratedBy ECO_0000203 NP743563.RASvHMfAp6qPIYahdOBCIZG6zwWxbGFZwBeTUpWjFrPHc130_provenance.
- befree-2016 importedOn "2016-02-19" NP743563.RASvHMfAp6qPIYahdOBCIZG6zwWxbGFZwBeTUpWjFrPHc130_provenance.