Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP315446.RAEFbmU-w0zUFusg6DDV9oR6spgN13Dc3ZX6QNgl-2S6M130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP315446.RAEFbmU-w0zUFusg6DDV9oR6spgN13Dc3ZX6QNgl-2S6M130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP315446.RAEFbmU-w0zUFusg6DDV9oR6spgN13Dc3ZX6QNgl-2S6M130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP315446.RAEFbmU-w0zUFusg6DDV9oR6spgN13Dc3ZX6QNgl-2S6M130_provenance.
- befree-20150227 importedOn "2015-02-27" NP315446.RAEFbmU-w0zUFusg6DDV9oR6spgN13Dc3ZX6QNgl-2S6M130_provenance.
- NP315446.RAEFbmU-w0zUFusg6DDV9oR6spgN13Dc3ZX6QNgl-2S6M130_assertion wasGeneratedBy ECO_0000203 NP315446.RAEFbmU-w0zUFusg6DDV9oR6spgN13Dc3ZX6QNgl-2S6M130_provenance.
- NP315446.RAEFbmU-w0zUFusg6DDV9oR6spgN13Dc3ZX6QNgl-2S6M130_assertion wasDerivedFrom befree-20150227 NP315446.RAEFbmU-w0zUFusg6DDV9oR6spgN13Dc3ZX6QNgl-2S6M130_provenance.
- NP315446.RAEFbmU-w0zUFusg6DDV9oR6spgN13Dc3ZX6QNgl-2S6M130_assertion SIO_000772 14584882 NP315446.RAEFbmU-w0zUFusg6DDV9oR6spgN13Dc3ZX6QNgl-2S6M130_provenance.
- NP315446.RAEFbmU-w0zUFusg6DDV9oR6spgN13Dc3ZX6QNgl-2S6M130_assertion evidence source_evidence_literature NP315446.RAEFbmU-w0zUFusg6DDV9oR6spgN13Dc3ZX6QNgl-2S6M130_provenance.
- NP315446.RAEFbmU-w0zUFusg6DDV9oR6spgN13Dc3ZX6QNgl-2S6M130_assertion description "[Our findings suggest that recessive ClCN7-dependent ARO may be associated with CNS involvement and have a very poor prognosis, whereas heterozygous ClCN7 mutations cause a wide range of phenotypes even in the same family, ranging from early severe to nearly asymptomatic forms.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP315446.RAEFbmU-w0zUFusg6DDV9oR6spgN13Dc3ZX6QNgl-2S6M130_provenance.