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- source_evidence_literature type ECO_0000212 NP595717.RAZnz2U9N6ouxXlEOghky_FeQ6hvjZZZzadCckqHJzUi4130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP595717.RAZnz2U9N6ouxXlEOghky_FeQ6hvjZZZzadCckqHJzUi4130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP595717.RAZnz2U9N6ouxXlEOghky_FeQ6hvjZZZzadCckqHJzUi4130_provenance.
- NP595717.RAZnz2U9N6ouxXlEOghky_FeQ6hvjZZZzadCckqHJzUi4130_assertion description "[Here, we report five heterozygous NOTCH1 variants in unrelated individuals with Adams-Oliver syndrome (AOS), a rare disease with major features of aplasia cutis of the scalp and terminal transverse limb defects.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP595717.RAZnz2U9N6ouxXlEOghky_FeQ6hvjZZZzadCckqHJzUi4130_provenance.
- NP595717.RAZnz2U9N6ouxXlEOghky_FeQ6hvjZZZzadCckqHJzUi4130_assertion evidence source_evidence_literature NP595717.RAZnz2U9N6ouxXlEOghky_FeQ6hvjZZZzadCckqHJzUi4130_provenance.
- NP595717.RAZnz2U9N6ouxXlEOghky_FeQ6hvjZZZzadCckqHJzUi4130_assertion SIO_000772 25132448 NP595717.RAZnz2U9N6ouxXlEOghky_FeQ6hvjZZZzadCckqHJzUi4130_provenance.
- NP595717.RAZnz2U9N6ouxXlEOghky_FeQ6hvjZZZzadCckqHJzUi4130_assertion wasDerivedFrom befree-20150227 NP595717.RAZnz2U9N6ouxXlEOghky_FeQ6hvjZZZzadCckqHJzUi4130_provenance.
- NP595717.RAZnz2U9N6ouxXlEOghky_FeQ6hvjZZZzadCckqHJzUi4130_assertion wasGeneratedBy ECO_0000203 NP595717.RAZnz2U9N6ouxXlEOghky_FeQ6hvjZZZzadCckqHJzUi4130_provenance.
- befree-20150227 importedOn "2015-02-27" NP595717.RAZnz2U9N6ouxXlEOghky_FeQ6hvjZZZzadCckqHJzUi4130_provenance.