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- source_evidence_literature type ECO_0000212 NP318996.RAlQjVJ4Ow05rJeo3XSr2FazAvDkrCprvbJgA9kBsMJys130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP318996.RAlQjVJ4Ow05rJeo3XSr2FazAvDkrCprvbJgA9kBsMJys130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP318996.RAlQjVJ4Ow05rJeo3XSr2FazAvDkrCprvbJgA9kBsMJys130_provenance.
- NP318996.RAlQjVJ4Ow05rJeo3XSr2FazAvDkrCprvbJgA9kBsMJys130_assertion description "[A novel COL1A1 mutation in infantile cortical hyperostosis (Caffey disease) expands the spectrum of collagen-related disorders.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP318996.RAlQjVJ4Ow05rJeo3XSr2FazAvDkrCprvbJgA9kBsMJys130_provenance.
- NP318996.RAlQjVJ4Ow05rJeo3XSr2FazAvDkrCprvbJgA9kBsMJys130_assertion evidence source_evidence_literature NP318996.RAlQjVJ4Ow05rJeo3XSr2FazAvDkrCprvbJgA9kBsMJys130_provenance.
- NP318996.RAlQjVJ4Ow05rJeo3XSr2FazAvDkrCprvbJgA9kBsMJys130_assertion SIO_000772 15864348 NP318996.RAlQjVJ4Ow05rJeo3XSr2FazAvDkrCprvbJgA9kBsMJys130_provenance.
- NP318996.RAlQjVJ4Ow05rJeo3XSr2FazAvDkrCprvbJgA9kBsMJys130_assertion wasDerivedFrom befree-20150227 NP318996.RAlQjVJ4Ow05rJeo3XSr2FazAvDkrCprvbJgA9kBsMJys130_provenance.
- NP318996.RAlQjVJ4Ow05rJeo3XSr2FazAvDkrCprvbJgA9kBsMJys130_assertion wasGeneratedBy ECO_0000203 NP318996.RAlQjVJ4Ow05rJeo3XSr2FazAvDkrCprvbJgA9kBsMJys130_provenance.
- befree-20150227 importedOn "2015-02-27" NP318996.RAlQjVJ4Ow05rJeo3XSr2FazAvDkrCprvbJgA9kBsMJys130_provenance.