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- source_evidence_literature type ECO_0000212 NP906636.RAcZmqjZTveYIHof2PD7_otdxNHmeHK7-ZFA0lUUObKEk130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP906636.RAcZmqjZTveYIHof2PD7_otdxNHmeHK7-ZFA0lUUObKEk130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP906636.RAcZmqjZTveYIHof2PD7_otdxNHmeHK7-ZFA0lUUObKEk130_provenance.
- NP906636.RAcZmqjZTveYIHof2PD7_otdxNHmeHK7-ZFA0lUUObKEk130_assertion description "[This review focuses on mutations causing four different diseases, which represent distinct pathological mechanisms that can exist within these superfamilies: autoimmune lymphoproliferative syndrome (ALPS; FAS mutations), common variable immunodeficiency (CVID; TACI mutations), tumor necrosis factor receptor associated periodic syndrome (TRAPS; TNFR1 mutations) and hypohidrotic ectodermal dysplasia (HED; EDA1/EDAR mutations).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP906636.RAcZmqjZTveYIHof2PD7_otdxNHmeHK7-ZFA0lUUObKEk130_provenance.
- NP906636.RAcZmqjZTveYIHof2PD7_otdxNHmeHK7-ZFA0lUUObKEk130_assertion evidence source_evidence_literature NP906636.RAcZmqjZTveYIHof2PD7_otdxNHmeHK7-ZFA0lUUObKEk130_provenance.
- NP906636.RAcZmqjZTveYIHof2PD7_otdxNHmeHK7-ZFA0lUUObKEk130_assertion SIO_000772 21724465 NP906636.RAcZmqjZTveYIHof2PD7_otdxNHmeHK7-ZFA0lUUObKEk130_provenance.
- NP906636.RAcZmqjZTveYIHof2PD7_otdxNHmeHK7-ZFA0lUUObKEk130_assertion wasDerivedFrom befree-2016 NP906636.RAcZmqjZTveYIHof2PD7_otdxNHmeHK7-ZFA0lUUObKEk130_provenance.
- NP906636.RAcZmqjZTveYIHof2PD7_otdxNHmeHK7-ZFA0lUUObKEk130_assertion wasGeneratedBy ECO_0000203 NP906636.RAcZmqjZTveYIHof2PD7_otdxNHmeHK7-ZFA0lUUObKEk130_provenance.
- befree-2016 importedOn "2016-02-19" NP906636.RAcZmqjZTveYIHof2PD7_otdxNHmeHK7-ZFA0lUUObKEk130_provenance.