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- source_evidence_literature type ECO_0000212 NP547971.RA6BdnmvAgn0N-BAB5wdgWMhU5bYf5Gm2bMudKxA8VmII130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP547971.RA6BdnmvAgn0N-BAB5wdgWMhU5bYf5Gm2bMudKxA8VmII130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP547971.RA6BdnmvAgn0N-BAB5wdgWMhU5bYf5Gm2bMudKxA8VmII130_provenance.
- NP547971.RA6BdnmvAgn0N-BAB5wdgWMhU5bYf5Gm2bMudKxA8VmII130_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." NP547971.RA6BdnmvAgn0N-BAB5wdgWMhU5bYf5Gm2bMudKxA8VmII130_provenance.
- NP547971.RA6BdnmvAgn0N-BAB5wdgWMhU5bYf5Gm2bMudKxA8VmII130_assertion evidence source_evidence_literature NP547971.RA6BdnmvAgn0N-BAB5wdgWMhU5bYf5Gm2bMudKxA8VmII130_provenance.
- NP547971.RA6BdnmvAgn0N-BAB5wdgWMhU5bYf5Gm2bMudKxA8VmII130_assertion SIO_000772 20472890 NP547971.RA6BdnmvAgn0N-BAB5wdgWMhU5bYf5Gm2bMudKxA8VmII130_provenance.
- NP547971.RA6BdnmvAgn0N-BAB5wdgWMhU5bYf5Gm2bMudKxA8VmII130_assertion wasDerivedFrom befree-20140225 NP547971.RA6BdnmvAgn0N-BAB5wdgWMhU5bYf5Gm2bMudKxA8VmII130_provenance.
- NP547971.RA6BdnmvAgn0N-BAB5wdgWMhU5bYf5Gm2bMudKxA8VmII130_assertion wasGeneratedBy ECO_0000203 NP547971.RA6BdnmvAgn0N-BAB5wdgWMhU5bYf5Gm2bMudKxA8VmII130_provenance.
- befree-20140225 importedOn "2014-02-25" NP547971.RA6BdnmvAgn0N-BAB5wdgWMhU5bYf5Gm2bMudKxA8VmII130_provenance.