Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP662299.RAC_GuABLRL5ngXjqC32LIn2cBmeRgPeYFDZCjXR-E-Pg130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP662299.RAC_GuABLRL5ngXjqC32LIn2cBmeRgPeYFDZCjXR-E-Pg130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP662299.RAC_GuABLRL5ngXjqC32LIn2cBmeRgPeYFDZCjXR-E-Pg130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP662299.RAC_GuABLRL5ngXjqC32LIn2cBmeRgPeYFDZCjXR-E-Pg130_provenance.
- NP662299.RAC_GuABLRL5ngXjqC32LIn2cBmeRgPeYFDZCjXR-E-Pg130_assertion description "[We describe a patient with a longstanding history of hypertrophic neuropathy of Dejerine-Sottas type, ultimately diagnosed with CMT1E disease due to a new p.Leu18Arg missense mutation in the first transmembrane domain of the PMP22 gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP662299.RAC_GuABLRL5ngXjqC32LIn2cBmeRgPeYFDZCjXR-E-Pg130_provenance.
- NP662299.RAC_GuABLRL5ngXjqC32LIn2cBmeRgPeYFDZCjXR-E-Pg130_assertion evidence source_evidence_literature NP662299.RAC_GuABLRL5ngXjqC32LIn2cBmeRgPeYFDZCjXR-E-Pg130_provenance.
- NP662299.RAC_GuABLRL5ngXjqC32LIn2cBmeRgPeYFDZCjXR-E-Pg130_assertion SIO_000772 23313019 NP662299.RAC_GuABLRL5ngXjqC32LIn2cBmeRgPeYFDZCjXR-E-Pg130_provenance.
- NP662299.RAC_GuABLRL5ngXjqC32LIn2cBmeRgPeYFDZCjXR-E-Pg130_assertion wasDerivedFrom befree-20150227 NP662299.RAC_GuABLRL5ngXjqC32LIn2cBmeRgPeYFDZCjXR-E-Pg130_provenance.
- NP662299.RAC_GuABLRL5ngXjqC32LIn2cBmeRgPeYFDZCjXR-E-Pg130_assertion wasGeneratedBy ECO_0000203 NP662299.RAC_GuABLRL5ngXjqC32LIn2cBmeRgPeYFDZCjXR-E-Pg130_provenance.
- befree-20150227 importedOn "2015-02-27" NP662299.RAC_GuABLRL5ngXjqC32LIn2cBmeRgPeYFDZCjXR-E-Pg130_provenance.