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- source_evidence_literature type ECO_0000212 NP1057470.RAEC1WFtHln_QVGctNqFStvsT3frENT7NizmS69pnWCjs130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP1057470.RAEC1WFtHln_QVGctNqFStvsT3frENT7NizmS69pnWCjs130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP1057470.RAEC1WFtHln_QVGctNqFStvsT3frENT7NizmS69pnWCjs130_provenance.
- befree-2016 importedOn "2016-02-19" NP1057470.RAEC1WFtHln_QVGctNqFStvsT3frENT7NizmS69pnWCjs130_provenance.
- NP1057470.RAEC1WFtHln_QVGctNqFStvsT3frENT7NizmS69pnWCjs130_assertion wasGeneratedBy ECO_0000203 NP1057470.RAEC1WFtHln_QVGctNqFStvsT3frENT7NizmS69pnWCjs130_provenance.
- NP1057470.RAEC1WFtHln_QVGctNqFStvsT3frENT7NizmS69pnWCjs130_assertion wasDerivedFrom befree-2016 NP1057470.RAEC1WFtHln_QVGctNqFStvsT3frENT7NizmS69pnWCjs130_provenance.
- NP1057470.RAEC1WFtHln_QVGctNqFStvsT3frENT7NizmS69pnWCjs130_assertion SIO_000772 23456818 NP1057470.RAEC1WFtHln_QVGctNqFStvsT3frENT7NizmS69pnWCjs130_provenance.
- NP1057470.RAEC1WFtHln_QVGctNqFStvsT3frENT7NizmS69pnWCjs130_assertion evidence source_evidence_literature NP1057470.RAEC1WFtHln_QVGctNqFStvsT3frENT7NizmS69pnWCjs130_provenance.
- NP1057470.RAEC1WFtHln_QVGctNqFStvsT3frENT7NizmS69pnWCjs130_assertion description "[Significant variability exists in the course and severity of the thoracic phenotype, both between affected siblings with identical DYNC2H1 alleles and among individuals with different alleles, which suggests the DYNC2H1 phenotype might be subject to modifier alleles, non-genetic or epigenetic factors.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1057470.RAEC1WFtHln_QVGctNqFStvsT3frENT7NizmS69pnWCjs130_provenance.