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- source_evidence_literature type ECO_0000212 NP917163.RABpNHX53V3VvLeXbu2_Km5b2_EaXaLSPrjL31ZaWFzp4130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP917163.RABpNHX53V3VvLeXbu2_Km5b2_EaXaLSPrjL31ZaWFzp4130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP917163.RABpNHX53V3VvLeXbu2_Km5b2_EaXaLSPrjL31ZaWFzp4130_provenance.
- NP917163.RABpNHX53V3VvLeXbu2_Km5b2_EaXaLSPrjL31ZaWFzp4130_assertion description "[The recent identification of genetic skin diseases with mutations in the genes encoding some of these proteins, including transglutaminase 1 and loricrin, has disclosed that abnormal cornified cell envelope synthesis is significantly involved in the pathophysiology of certain inherited keratodermas and reflects perturbations in the complex, yet highly orderly process of cornified cell envelope formation in normal skin biology.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP917163.RABpNHX53V3VvLeXbu2_Km5b2_EaXaLSPrjL31ZaWFzp4130_provenance.
- NP917163.RABpNHX53V3VvLeXbu2_Km5b2_EaXaLSPrjL31ZaWFzp4130_assertion evidence source_evidence_literature NP917163.RABpNHX53V3VvLeXbu2_Km5b2_EaXaLSPrjL31ZaWFzp4130_provenance.
- NP917163.RABpNHX53V3VvLeXbu2_Km5b2_EaXaLSPrjL31ZaWFzp4130_assertion SIO_000772 9517915 NP917163.RABpNHX53V3VvLeXbu2_Km5b2_EaXaLSPrjL31ZaWFzp4130_provenance.
- NP917163.RABpNHX53V3VvLeXbu2_Km5b2_EaXaLSPrjL31ZaWFzp4130_assertion wasDerivedFrom befree-20140225 NP917163.RABpNHX53V3VvLeXbu2_Km5b2_EaXaLSPrjL31ZaWFzp4130_provenance.
- NP917163.RABpNHX53V3VvLeXbu2_Km5b2_EaXaLSPrjL31ZaWFzp4130_assertion wasGeneratedBy ECO_0000203 NP917163.RABpNHX53V3VvLeXbu2_Km5b2_EaXaLSPrjL31ZaWFzp4130_provenance.
- befree-20140225 importedOn "2014-02-25" NP917163.RABpNHX53V3VvLeXbu2_Km5b2_EaXaLSPrjL31ZaWFzp4130_provenance.