Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP581935.RAtze0D0fewcWKd1gFburdoYQIsSCCmds4XxneSLZGeDk130_provenance>. }
Showing items 1 to 9 of
9
with 100 items per page.
- source_evidence_literature type ECO_0000212 NP581935.RAtze0D0fewcWKd1gFburdoYQIsSCCmds4XxneSLZGeDk130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP581935.RAtze0D0fewcWKd1gFburdoYQIsSCCmds4XxneSLZGeDk130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP581935.RAtze0D0fewcWKd1gFburdoYQIsSCCmds4XxneSLZGeDk130_provenance.
- NP581935.RAtze0D0fewcWKd1gFburdoYQIsSCCmds4XxneSLZGeDk130_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." NP581935.RAtze0D0fewcWKd1gFburdoYQIsSCCmds4XxneSLZGeDk130_provenance.
- NP581935.RAtze0D0fewcWKd1gFburdoYQIsSCCmds4XxneSLZGeDk130_assertion evidence source_evidence_literature NP581935.RAtze0D0fewcWKd1gFburdoYQIsSCCmds4XxneSLZGeDk130_provenance.
- NP581935.RAtze0D0fewcWKd1gFburdoYQIsSCCmds4XxneSLZGeDk130_assertion SIO_000772 14584882 NP581935.RAtze0D0fewcWKd1gFburdoYQIsSCCmds4XxneSLZGeDk130_provenance.
- NP581935.RAtze0D0fewcWKd1gFburdoYQIsSCCmds4XxneSLZGeDk130_assertion wasDerivedFrom befree-20140225 NP581935.RAtze0D0fewcWKd1gFburdoYQIsSCCmds4XxneSLZGeDk130_provenance.
- NP581935.RAtze0D0fewcWKd1gFburdoYQIsSCCmds4XxneSLZGeDk130_assertion wasGeneratedBy ECO_0000203 NP581935.RAtze0D0fewcWKd1gFburdoYQIsSCCmds4XxneSLZGeDk130_provenance.
- befree-20140225 importedOn "2014-02-25" NP581935.RAtze0D0fewcWKd1gFburdoYQIsSCCmds4XxneSLZGeDk130_provenance.