Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP782166.RASSXnT2Z7RxrXgVlse0oBI7RylIehXOhYM-SiKPIM0A4130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP782166.RASSXnT2Z7RxrXgVlse0oBI7RylIehXOhYM-SiKPIM0A4130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP782166.RASSXnT2Z7RxrXgVlse0oBI7RylIehXOhYM-SiKPIM0A4130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP782166.RASSXnT2Z7RxrXgVlse0oBI7RylIehXOhYM-SiKPIM0A4130_provenance.
- NP782166.RASSXnT2Z7RxrXgVlse0oBI7RylIehXOhYM-SiKPIM0A4130_assertion description "[The founder member of this gene family, MTM1, is mutated in X-linked myotubular myopathy, a severe congenital disorder that affects skeletal muscle, and codes for myotubularin, a specific phosphatidylinositol 3-phosphate [PI(3)P] phosphatase.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP782166.RASSXnT2Z7RxrXgVlse0oBI7RylIehXOhYM-SiKPIM0A4130_provenance.
- NP782166.RASSXnT2Z7RxrXgVlse0oBI7RylIehXOhYM-SiKPIM0A4130_assertion evidence source_evidence_literature NP782166.RASSXnT2Z7RxrXgVlse0oBI7RylIehXOhYM-SiKPIM0A4130_provenance.
- NP782166.RASSXnT2Z7RxrXgVlse0oBI7RylIehXOhYM-SiKPIM0A4130_assertion SIO_000772 12217958 NP782166.RASSXnT2Z7RxrXgVlse0oBI7RylIehXOhYM-SiKPIM0A4130_provenance.
- NP782166.RASSXnT2Z7RxrXgVlse0oBI7RylIehXOhYM-SiKPIM0A4130_assertion wasDerivedFrom befree-20140225 NP782166.RASSXnT2Z7RxrXgVlse0oBI7RylIehXOhYM-SiKPIM0A4130_provenance.
- NP782166.RASSXnT2Z7RxrXgVlse0oBI7RylIehXOhYM-SiKPIM0A4130_assertion wasGeneratedBy ECO_0000203 NP782166.RASSXnT2Z7RxrXgVlse0oBI7RylIehXOhYM-SiKPIM0A4130_provenance.
- befree-20140225 importedOn "2014-02-25" NP782166.RASSXnT2Z7RxrXgVlse0oBI7RylIehXOhYM-SiKPIM0A4130_provenance.