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- source_evidence_literature type ECO_0000212 NP344402.RAHRR1Dz7Z38neoVmhtDqxOduhm1r9zT-5-LI-vr-Fw6I130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP344402.RAHRR1Dz7Z38neoVmhtDqxOduhm1r9zT-5-LI-vr-Fw6I130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP344402.RAHRR1Dz7Z38neoVmhtDqxOduhm1r9zT-5-LI-vr-Fw6I130_provenance.
- NP344402.RAHRR1Dz7Z38neoVmhtDqxOduhm1r9zT-5-LI-vr-Fw6I130_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." NP344402.RAHRR1Dz7Z38neoVmhtDqxOduhm1r9zT-5-LI-vr-Fw6I130_provenance.
- NP344402.RAHRR1Dz7Z38neoVmhtDqxOduhm1r9zT-5-LI-vr-Fw6I130_assertion evidence source_evidence_literature NP344402.RAHRR1Dz7Z38neoVmhtDqxOduhm1r9zT-5-LI-vr-Fw6I130_provenance.
- NP344402.RAHRR1Dz7Z38neoVmhtDqxOduhm1r9zT-5-LI-vr-Fw6I130_assertion SIO_000772 11835375 NP344402.RAHRR1Dz7Z38neoVmhtDqxOduhm1r9zT-5-LI-vr-Fw6I130_provenance.
- NP344402.RAHRR1Dz7Z38neoVmhtDqxOduhm1r9zT-5-LI-vr-Fw6I130_assertion wasDerivedFrom befree-2016 NP344402.RAHRR1Dz7Z38neoVmhtDqxOduhm1r9zT-5-LI-vr-Fw6I130_provenance.
- NP344402.RAHRR1Dz7Z38neoVmhtDqxOduhm1r9zT-5-LI-vr-Fw6I130_assertion wasGeneratedBy ECO_0000203 NP344402.RAHRR1Dz7Z38neoVmhtDqxOduhm1r9zT-5-LI-vr-Fw6I130_provenance.
- befree-2016 importedOn "2016-02-19" NP344402.RAHRR1Dz7Z38neoVmhtDqxOduhm1r9zT-5-LI-vr-Fw6I130_provenance.