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- source_evidence_literature type ECO_0000212 NP838740.RAIpm04C_GceVlWO_xuSzj2VP-njcyjYL6Oqx3SoH75_E130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP838740.RAIpm04C_GceVlWO_xuSzj2VP-njcyjYL6Oqx3SoH75_E130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP838740.RAIpm04C_GceVlWO_xuSzj2VP-njcyjYL6Oqx3SoH75_E130_provenance.
- NP838740.RAIpm04C_GceVlWO_xuSzj2VP-njcyjYL6Oqx3SoH75_E130_assertion description "[Mutations in the lamin A/C gene determine a heterogeneous group of congenital diseases, termed laminopathies, consisting of more than 15 phenotypes, including autosomal dominant Emery-Dreifuss muscular dystrophy and limb-girdle muscular dystrophy type 1B.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP838740.RAIpm04C_GceVlWO_xuSzj2VP-njcyjYL6Oqx3SoH75_E130_provenance.
- NP838740.RAIpm04C_GceVlWO_xuSzj2VP-njcyjYL6Oqx3SoH75_E130_assertion evidence source_evidence_literature NP838740.RAIpm04C_GceVlWO_xuSzj2VP-njcyjYL6Oqx3SoH75_E130_provenance.
- NP838740.RAIpm04C_GceVlWO_xuSzj2VP-njcyjYL6Oqx3SoH75_E130_assertion SIO_000772 20837309 NP838740.RAIpm04C_GceVlWO_xuSzj2VP-njcyjYL6Oqx3SoH75_E130_provenance.
- NP838740.RAIpm04C_GceVlWO_xuSzj2VP-njcyjYL6Oqx3SoH75_E130_assertion wasDerivedFrom befree-2016 NP838740.RAIpm04C_GceVlWO_xuSzj2VP-njcyjYL6Oqx3SoH75_E130_provenance.
- NP838740.RAIpm04C_GceVlWO_xuSzj2VP-njcyjYL6Oqx3SoH75_E130_assertion wasGeneratedBy ECO_0000203 NP838740.RAIpm04C_GceVlWO_xuSzj2VP-njcyjYL6Oqx3SoH75_E130_provenance.
- befree-2016 importedOn "2016-02-19" NP838740.RAIpm04C_GceVlWO_xuSzj2VP-njcyjYL6Oqx3SoH75_E130_provenance.