Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP418657.RA3cpSHLsZP4xY5-UCOQfoSEHj__VmoOROPAhseE4BaWk130_assertion> ?p ?o ?g. }
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- NP418657.RA3cpSHLsZP4xY5-UCOQfoSEHj__VmoOROPAhseE4BaWk130_assertion type Assertion NP418657.RA3cpSHLsZP4xY5-UCOQfoSEHj__VmoOROPAhseE4BaWk130_head.
- NP418657.RA3cpSHLsZP4xY5-UCOQfoSEHj__VmoOROPAhseE4BaWk130_assertion wasGeneratedBy ECO_0000203 NP418657.RA3cpSHLsZP4xY5-UCOQfoSEHj__VmoOROPAhseE4BaWk130_provenance.
- NP418657.RA3cpSHLsZP4xY5-UCOQfoSEHj__VmoOROPAhseE4BaWk130_assertion wasDerivedFrom befree-2016 NP418657.RA3cpSHLsZP4xY5-UCOQfoSEHj__VmoOROPAhseE4BaWk130_provenance.
- NP418657.RA3cpSHLsZP4xY5-UCOQfoSEHj__VmoOROPAhseE4BaWk130_assertion SIO_000772 14584882 NP418657.RA3cpSHLsZP4xY5-UCOQfoSEHj__VmoOROPAhseE4BaWk130_provenance.
- NP418657.RA3cpSHLsZP4xY5-UCOQfoSEHj__VmoOROPAhseE4BaWk130_assertion evidence source_evidence_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.