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- source_evidence_literature type ECO_0000212 NP418657.RA3cpSHLsZP4xY5-UCOQfoSEHj__VmoOROPAhseE4BaWk130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP418657.RA3cpSHLsZP4xY5-UCOQfoSEHj__VmoOROPAhseE4BaWk130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP418657.RA3cpSHLsZP4xY5-UCOQfoSEHj__VmoOROPAhseE4BaWk130_provenance.
- NP418657.RA3cpSHLsZP4xY5-UCOQfoSEHj__VmoOROPAhseE4BaWk130_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." NP418657.RA3cpSHLsZP4xY5-UCOQfoSEHj__VmoOROPAhseE4BaWk130_provenance.
- NP418657.RA3cpSHLsZP4xY5-UCOQfoSEHj__VmoOROPAhseE4BaWk130_assertion evidence source_evidence_literature NP418657.RA3cpSHLsZP4xY5-UCOQfoSEHj__VmoOROPAhseE4BaWk130_provenance.
- NP418657.RA3cpSHLsZP4xY5-UCOQfoSEHj__VmoOROPAhseE4BaWk130_assertion SIO_000772 14584882 NP418657.RA3cpSHLsZP4xY5-UCOQfoSEHj__VmoOROPAhseE4BaWk130_provenance.
- NP418657.RA3cpSHLsZP4xY5-UCOQfoSEHj__VmoOROPAhseE4BaWk130_assertion wasDerivedFrom befree-2016 NP418657.RA3cpSHLsZP4xY5-UCOQfoSEHj__VmoOROPAhseE4BaWk130_provenance.
- NP418657.RA3cpSHLsZP4xY5-UCOQfoSEHj__VmoOROPAhseE4BaWk130_assertion wasGeneratedBy ECO_0000203 NP418657.RA3cpSHLsZP4xY5-UCOQfoSEHj__VmoOROPAhseE4BaWk130_provenance.
- befree-2016 importedOn "2016-02-19" NP418657.RA3cpSHLsZP4xY5-UCOQfoSEHj__VmoOROPAhseE4BaWk130_provenance.