Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP723778.RAYyqxtPuE6OWBGU_L2Dx3MxHUIK4WeULGiQg8yF-mOGo130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP723778.RAYyqxtPuE6OWBGU_L2Dx3MxHUIK4WeULGiQg8yF-mOGo130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP723778.RAYyqxtPuE6OWBGU_L2Dx3MxHUIK4WeULGiQg8yF-mOGo130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP723778.RAYyqxtPuE6OWBGU_L2Dx3MxHUIK4WeULGiQg8yF-mOGo130_provenance.
- befree-20150227 importedOn "2015-02-27" NP723778.RAYyqxtPuE6OWBGU_L2Dx3MxHUIK4WeULGiQg8yF-mOGo130_provenance.
- NP723778.RAYyqxtPuE6OWBGU_L2Dx3MxHUIK4WeULGiQg8yF-mOGo130_assertion wasGeneratedBy ECO_0000203 NP723778.RAYyqxtPuE6OWBGU_L2Dx3MxHUIK4WeULGiQg8yF-mOGo130_provenance.
- NP723778.RAYyqxtPuE6OWBGU_L2Dx3MxHUIK4WeULGiQg8yF-mOGo130_assertion wasDerivedFrom befree-20150227 NP723778.RAYyqxtPuE6OWBGU_L2Dx3MxHUIK4WeULGiQg8yF-mOGo130_provenance.
- NP723778.RAYyqxtPuE6OWBGU_L2Dx3MxHUIK4WeULGiQg8yF-mOGo130_assertion SIO_000772 16938882 NP723778.RAYyqxtPuE6OWBGU_L2Dx3MxHUIK4WeULGiQg8yF-mOGo130_provenance.
- NP723778.RAYyqxtPuE6OWBGU_L2Dx3MxHUIK4WeULGiQg8yF-mOGo130_assertion evidence source_evidence_literature NP723778.RAYyqxtPuE6OWBGU_L2Dx3MxHUIK4WeULGiQg8yF-mOGo130_provenance.
- NP723778.RAYyqxtPuE6OWBGU_L2Dx3MxHUIK4WeULGiQg8yF-mOGo130_assertion description "[Deletion and truncation mutations in the gene encoding TBCE have been shown to cause the rare autosomal recessive syndrome known as HRD, a devastating disorder characterized by congenital hypoparathyroidism, mental retardation, facial dysmorphism, and extreme growth failure.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP723778.RAYyqxtPuE6OWBGU_L2Dx3MxHUIK4WeULGiQg8yF-mOGo130_provenance.