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- source_evidence_literature type ECO_0000212 NP418348.RAfDIgWGQh8YJAddrtkyl4RZJDOma0ZFmJt3xvoYMzzas130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP418348.RAfDIgWGQh8YJAddrtkyl4RZJDOma0ZFmJt3xvoYMzzas130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP418348.RAfDIgWGQh8YJAddrtkyl4RZJDOma0ZFmJt3xvoYMzzas130_provenance.
- NP418348.RAfDIgWGQh8YJAddrtkyl4RZJDOma0ZFmJt3xvoYMzzas130_assertion description "[We have introduced a pseudoachondroplasia-associated mutation (His(587)-->Arg) into the C-terminal collagen-binding domain of COMP (cartilage oligomeric matrix protein) and recombinantly expressed the full-length protein as well as truncated fragments in HEK-293 cells.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP418348.RAfDIgWGQh8YJAddrtkyl4RZJDOma0ZFmJt3xvoYMzzas130_provenance.
- NP418348.RAfDIgWGQh8YJAddrtkyl4RZJDOma0ZFmJt3xvoYMzzas130_assertion evidence source_evidence_literature NP418348.RAfDIgWGQh8YJAddrtkyl4RZJDOma0ZFmJt3xvoYMzzas130_provenance.
- NP418348.RAfDIgWGQh8YJAddrtkyl4RZJDOma0ZFmJt3xvoYMzzas130_assertion SIO_000772 14580238 NP418348.RAfDIgWGQh8YJAddrtkyl4RZJDOma0ZFmJt3xvoYMzzas130_provenance.
- NP418348.RAfDIgWGQh8YJAddrtkyl4RZJDOma0ZFmJt3xvoYMzzas130_assertion wasDerivedFrom befree-2016 NP418348.RAfDIgWGQh8YJAddrtkyl4RZJDOma0ZFmJt3xvoYMzzas130_provenance.
- NP418348.RAfDIgWGQh8YJAddrtkyl4RZJDOma0ZFmJt3xvoYMzzas130_assertion wasGeneratedBy ECO_0000203 NP418348.RAfDIgWGQh8YJAddrtkyl4RZJDOma0ZFmJt3xvoYMzzas130_provenance.
- befree-2016 importedOn "2016-02-19" NP418348.RAfDIgWGQh8YJAddrtkyl4RZJDOma0ZFmJt3xvoYMzzas130_provenance.