Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP651959.RAIB7luV6K1pqt8kzAPm9ZqUc-gkCNWiD5tEgAVhcE3lw130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP651959.RAIB7luV6K1pqt8kzAPm9ZqUc-gkCNWiD5tEgAVhcE3lw130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP651959.RAIB7luV6K1pqt8kzAPm9ZqUc-gkCNWiD5tEgAVhcE3lw130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP651959.RAIB7luV6K1pqt8kzAPm9ZqUc-gkCNWiD5tEgAVhcE3lw130_provenance.
- NP651959.RAIB7luV6K1pqt8kzAPm9ZqUc-gkCNWiD5tEgAVhcE3lw130_assertion description "[These data provide the first evidence that the ER-retention of mutant FKRP may play a role in the pathogenesis of CMD and potentially explain why the allelic disorder LGMD2I is milder, because the mutated protein is able to reach the Golgi apparatus.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP651959.RAIB7luV6K1pqt8kzAPm9ZqUc-gkCNWiD5tEgAVhcE3lw130_provenance.
- NP651959.RAIB7luV6K1pqt8kzAPm9ZqUc-gkCNWiD5tEgAVhcE3lw130_assertion evidence source_evidence_literature NP651959.RAIB7luV6K1pqt8kzAPm9ZqUc-gkCNWiD5tEgAVhcE3lw130_provenance.
- NP651959.RAIB7luV6K1pqt8kzAPm9ZqUc-gkCNWiD5tEgAVhcE3lw130_assertion SIO_000772 15574464 NP651959.RAIB7luV6K1pqt8kzAPm9ZqUc-gkCNWiD5tEgAVhcE3lw130_provenance.
- NP651959.RAIB7luV6K1pqt8kzAPm9ZqUc-gkCNWiD5tEgAVhcE3lw130_assertion wasDerivedFrom befree-20140225 NP651959.RAIB7luV6K1pqt8kzAPm9ZqUc-gkCNWiD5tEgAVhcE3lw130_provenance.
- NP651959.RAIB7luV6K1pqt8kzAPm9ZqUc-gkCNWiD5tEgAVhcE3lw130_assertion wasGeneratedBy ECO_0000203 NP651959.RAIB7luV6K1pqt8kzAPm9ZqUc-gkCNWiD5tEgAVhcE3lw130_provenance.
- befree-20140225 importedOn "2014-02-25" NP651959.RAIB7luV6K1pqt8kzAPm9ZqUc-gkCNWiD5tEgAVhcE3lw130_provenance.