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- source_evidence_literature type ECO_0000212 NP1175827.RAQPq1Ebyfl-iL-Lhu4cYGVRaMfXOgx9ooxg0s0zPR3cM130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP1175827.RAQPq1Ebyfl-iL-Lhu4cYGVRaMfXOgx9ooxg0s0zPR3cM130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP1175827.RAQPq1Ebyfl-iL-Lhu4cYGVRaMfXOgx9ooxg0s0zPR3cM130_provenance.
- NP1175827.RAQPq1Ebyfl-iL-Lhu4cYGVRaMfXOgx9ooxg0s0zPR3cM130_assertion description "[Identification of two novel SMCHD1 sequence variants in families with FSHD-like muscular dystrophy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1175827.RAQPq1Ebyfl-iL-Lhu4cYGVRaMfXOgx9ooxg0s0zPR3cM130_provenance.
- NP1175827.RAQPq1Ebyfl-iL-Lhu4cYGVRaMfXOgx9ooxg0s0zPR3cM130_assertion evidence source_evidence_literature NP1175827.RAQPq1Ebyfl-iL-Lhu4cYGVRaMfXOgx9ooxg0s0zPR3cM130_provenance.
- NP1175827.RAQPq1Ebyfl-iL-Lhu4cYGVRaMfXOgx9ooxg0s0zPR3cM130_assertion SIO_000772 24755953 NP1175827.RAQPq1Ebyfl-iL-Lhu4cYGVRaMfXOgx9ooxg0s0zPR3cM130_provenance.
- NP1175827.RAQPq1Ebyfl-iL-Lhu4cYGVRaMfXOgx9ooxg0s0zPR3cM130_assertion wasDerivedFrom befree-2016 NP1175827.RAQPq1Ebyfl-iL-Lhu4cYGVRaMfXOgx9ooxg0s0zPR3cM130_provenance.
- NP1175827.RAQPq1Ebyfl-iL-Lhu4cYGVRaMfXOgx9ooxg0s0zPR3cM130_assertion wasGeneratedBy ECO_0000203 NP1175827.RAQPq1Ebyfl-iL-Lhu4cYGVRaMfXOgx9ooxg0s0zPR3cM130_provenance.
- befree-2016 importedOn "2016-02-19" NP1175827.RAQPq1Ebyfl-iL-Lhu4cYGVRaMfXOgx9ooxg0s0zPR3cM130_provenance.