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- source_evidence_literature type ECO_0000212 NP812405.RAM4p2RGgK7DL0lmoNkTKmJntp9wBbEx-4R9Oxv1LU8m8130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP812405.RAM4p2RGgK7DL0lmoNkTKmJntp9wBbEx-4R9Oxv1LU8m8130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP812405.RAM4p2RGgK7DL0lmoNkTKmJntp9wBbEx-4R9Oxv1LU8m8130_provenance.
- NP812405.RAM4p2RGgK7DL0lmoNkTKmJntp9wBbEx-4R9Oxv1LU8m8130_assertion description "[Prompted by the observation of a marked chronic peripheral neuropathy in a patient suffering from rippling muscle disease due to the R26Q caveolin-3 mutation and because TrkA is expressed by neuronal cells and skeletal muscle fibers, we performed a detailed comparative study on the effect of pathogenic caveolin-3 mutants on the signaling and trafficking of the TrkA nerve growth factor receptor and, for comparison, of the epidermal growth factor receptor.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP812405.RAM4p2RGgK7DL0lmoNkTKmJntp9wBbEx-4R9Oxv1LU8m8130_provenance.
- NP812405.RAM4p2RGgK7DL0lmoNkTKmJntp9wBbEx-4R9Oxv1LU8m8130_assertion evidence source_evidence_literature NP812405.RAM4p2RGgK7DL0lmoNkTKmJntp9wBbEx-4R9Oxv1LU8m8130_provenance.
- NP812405.RAM4p2RGgK7DL0lmoNkTKmJntp9wBbEx-4R9Oxv1LU8m8130_assertion SIO_000772 20472890 NP812405.RAM4p2RGgK7DL0lmoNkTKmJntp9wBbEx-4R9Oxv1LU8m8130_provenance.
- NP812405.RAM4p2RGgK7DL0lmoNkTKmJntp9wBbEx-4R9Oxv1LU8m8130_assertion wasDerivedFrom befree-2016 NP812405.RAM4p2RGgK7DL0lmoNkTKmJntp9wBbEx-4R9Oxv1LU8m8130_provenance.
- NP812405.RAM4p2RGgK7DL0lmoNkTKmJntp9wBbEx-4R9Oxv1LU8m8130_assertion wasGeneratedBy ECO_0000203 NP812405.RAM4p2RGgK7DL0lmoNkTKmJntp9wBbEx-4R9Oxv1LU8m8130_provenance.
- befree-2016 importedOn "2016-02-19" NP812405.RAM4p2RGgK7DL0lmoNkTKmJntp9wBbEx-4R9Oxv1LU8m8130_provenance.