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- source_evidence_literature type ECO_0000212 NP944609.RAVmKPjdWHeB5Upcb9-EN-XN-zKBN4xGbcTkYiLoOG044130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP944609.RAVmKPjdWHeB5Upcb9-EN-XN-zKBN4xGbcTkYiLoOG044130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP944609.RAVmKPjdWHeB5Upcb9-EN-XN-zKBN4xGbcTkYiLoOG044130_provenance.
- NP944609.RAVmKPjdWHeB5Upcb9-EN-XN-zKBN4xGbcTkYiLoOG044130_assertion description "[Five families with AR demyelinating CMT and SH3TC2 mutations were identified, four families were homozygous for the R954X mutation and the fifth family was compound heterozygous for the R954X and E657K mutations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP944609.RAVmKPjdWHeB5Upcb9-EN-XN-zKBN4xGbcTkYiLoOG044130_provenance.
- NP944609.RAVmKPjdWHeB5Upcb9-EN-XN-zKBN4xGbcTkYiLoOG044130_assertion evidence source_evidence_literature NP944609.RAVmKPjdWHeB5Upcb9-EN-XN-zKBN4xGbcTkYiLoOG044130_provenance.
- NP944609.RAVmKPjdWHeB5Upcb9-EN-XN-zKBN4xGbcTkYiLoOG044130_assertion SIO_000772 19272779 NP944609.RAVmKPjdWHeB5Upcb9-EN-XN-zKBN4xGbcTkYiLoOG044130_provenance.
- NP944609.RAVmKPjdWHeB5Upcb9-EN-XN-zKBN4xGbcTkYiLoOG044130_assertion wasDerivedFrom befree-20150227 NP944609.RAVmKPjdWHeB5Upcb9-EN-XN-zKBN4xGbcTkYiLoOG044130_provenance.
- NP944609.RAVmKPjdWHeB5Upcb9-EN-XN-zKBN4xGbcTkYiLoOG044130_assertion wasGeneratedBy ECO_0000203 NP944609.RAVmKPjdWHeB5Upcb9-EN-XN-zKBN4xGbcTkYiLoOG044130_provenance.
- befree-20150227 importedOn "2015-02-27" NP944609.RAVmKPjdWHeB5Upcb9-EN-XN-zKBN4xGbcTkYiLoOG044130_provenance.