Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP72848.RAIQlGSpDAzm6pfi7UXny4uSPDfw5iLmLHQpU3LjGHd1M130_assertion> ?p ?o ?g. }
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- NP72848.RAIQlGSpDAzm6pfi7UXny4uSPDfw5iLmLHQpU3LjGHd1M130_assertion type Assertion NP72848.RAIQlGSpDAzm6pfi7UXny4uSPDfw5iLmLHQpU3LjGHd1M130_head.
- NP72848.RAIQlGSpDAzm6pfi7UXny4uSPDfw5iLmLHQpU3LjGHd1M130_assertion description "[To determine the frequency of mutations in these genes among patients with CMT or a related peripheral neuropathy, we identified 153 unrelated patients who enrolled prior to the availability of clinical testing, 79 had a 17p12 duplication (CMT1A duplication), 11 a connexin 32 mutation, 5 a myelin protein zero mutation, 5 a peripheral myelin protein 22 mutation, 1 an early growth response factor 2 mutation, 1 a periaxin mutation, 0 a myotubularin related protein 2 mutation, 1 a neurofilament light chain mutation, and 50 had no identifiable mutation; the N-myc downstream regulated gene 1 and the kinesin 1B gene were not screened for mutations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP72848.RAIQlGSpDAzm6pfi7UXny4uSPDfw5iLmLHQpU3LjGHd1M130_provenance.
- NP72848.RAIQlGSpDAzm6pfi7UXny4uSPDfw5iLmLHQpU3LjGHd1M130_assertion evidence source_evidence_literature NP72848.RAIQlGSpDAzm6pfi7UXny4uSPDfw5iLmLHQpU3LjGHd1M130_provenance.
- NP72848.RAIQlGSpDAzm6pfi7UXny4uSPDfw5iLmLHQpU3LjGHd1M130_assertion SIO_000772 11835375 NP72848.RAIQlGSpDAzm6pfi7UXny4uSPDfw5iLmLHQpU3LjGHd1M130_provenance.
- NP72848.RAIQlGSpDAzm6pfi7UXny4uSPDfw5iLmLHQpU3LjGHd1M130_assertion wasDerivedFrom gad-20150221 NP72848.RAIQlGSpDAzm6pfi7UXny4uSPDfw5iLmLHQpU3LjGHd1M130_provenance.
- NP72848.RAIQlGSpDAzm6pfi7UXny4uSPDfw5iLmLHQpU3LjGHd1M130_assertion wasGeneratedBy ECO_0000203 NP72848.RAIQlGSpDAzm6pfi7UXny4uSPDfw5iLmLHQpU3LjGHd1M130_provenance.