Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP998437.RAnd0Cpu1e3A5Ycnnike8rx-WMVqjhmMB7ZHQu9vEiynk#provenance>. }
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- source_evidence_literature type ECO_0000212 provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." provenance.
- BEFREE importedOn "2017-02-19" provenance.
- assertion wasGeneratedBy ECO_0000203 provenance.
- assertion wasDerivedFrom BEFREE provenance.
- assertion SIO_000772 16938882 provenance.
- assertion evidence source_evidence_literature provenance.
- 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." provenance.