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- source_evidence_literature type ECO_0000212 NP592380.RAm8dsDLqucmJ3exAnKH2PQyh_uNAE7HVU74_3kxssdBI130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP592380.RAm8dsDLqucmJ3exAnKH2PQyh_uNAE7HVU74_3kxssdBI130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP592380.RAm8dsDLqucmJ3exAnKH2PQyh_uNAE7HVU74_3kxssdBI130_provenance.
- NP592380.RAm8dsDLqucmJ3exAnKH2PQyh_uNAE7HVU74_3kxssdBI130_assertion description "[TSP-5 is of interest because mutations in the gene cause two skeletal dysplasias, pseudoachondroplasia (PSACH) and multiple epiphyseal dysplasia (MED/EDM1).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP592380.RAm8dsDLqucmJ3exAnKH2PQyh_uNAE7HVU74_3kxssdBI130_provenance.
- NP592380.RAm8dsDLqucmJ3exAnKH2PQyh_uNAE7HVU74_3kxssdBI130_assertion evidence source_evidence_literature NP592380.RAm8dsDLqucmJ3exAnKH2PQyh_uNAE7HVU74_3kxssdBI130_provenance.
- NP592380.RAm8dsDLqucmJ3exAnKH2PQyh_uNAE7HVU74_3kxssdBI130_assertion SIO_000772 18193163 NP592380.RAm8dsDLqucmJ3exAnKH2PQyh_uNAE7HVU74_3kxssdBI130_provenance.
- NP592380.RAm8dsDLqucmJ3exAnKH2PQyh_uNAE7HVU74_3kxssdBI130_assertion wasDerivedFrom befree-20140225 NP592380.RAm8dsDLqucmJ3exAnKH2PQyh_uNAE7HVU74_3kxssdBI130_provenance.
- NP592380.RAm8dsDLqucmJ3exAnKH2PQyh_uNAE7HVU74_3kxssdBI130_assertion wasGeneratedBy ECO_0000203 NP592380.RAm8dsDLqucmJ3exAnKH2PQyh_uNAE7HVU74_3kxssdBI130_provenance.
- befree-20140225 importedOn "2014-02-25" NP592380.RAm8dsDLqucmJ3exAnKH2PQyh_uNAE7HVU74_3kxssdBI130_provenance.