Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP615438.RA6rQFOSsRUtQKjqsSe0dyIHpkqi3CIfKKGNLH6ZSdbwM130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP615438.RA6rQFOSsRUtQKjqsSe0dyIHpkqi3CIfKKGNLH6ZSdbwM130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP615438.RA6rQFOSsRUtQKjqsSe0dyIHpkqi3CIfKKGNLH6ZSdbwM130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP615438.RA6rQFOSsRUtQKjqsSe0dyIHpkqi3CIfKKGNLH6ZSdbwM130_provenance.
- NP615438.RA6rQFOSsRUtQKjqsSe0dyIHpkqi3CIfKKGNLH6ZSdbwM130_assertion description "[In addition, this gene may be responsible for a new hereditary syndrome predisposing to a variety of tumors designated `rhabdoid predisposition syndrome.` In the present study, we analyzed a series of 53 ependymal tumors of 48 patients [4 myxopapillary ependymomas (WHO grade I), 3 subependymomas (WHO grade I), 18 ependymomas (WHO grade II), 21 anaplastic ependymomas (WHO grade III) and 2 ependymoblastomas (WHO grade IV)] for mutations and homozygous deletions in the coding region of the hSNF5/INI1 gene and for allelic loss of its flanking chromosomal regions in 39 ependymal tumors of 35 patients.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP615438.RA6rQFOSsRUtQKjqsSe0dyIHpkqi3CIfKKGNLH6ZSdbwM130_provenance.
- NP615438.RA6rQFOSsRUtQKjqsSe0dyIHpkqi3CIfKKGNLH6ZSdbwM130_assertion evidence source_evidence_literature NP615438.RA6rQFOSsRUtQKjqsSe0dyIHpkqi3CIfKKGNLH6ZSdbwM130_provenance.
- NP615438.RA6rQFOSsRUtQKjqsSe0dyIHpkqi3CIfKKGNLH6ZSdbwM130_assertion SIO_000772 11547953 NP615438.RA6rQFOSsRUtQKjqsSe0dyIHpkqi3CIfKKGNLH6ZSdbwM130_provenance.
- NP615438.RA6rQFOSsRUtQKjqsSe0dyIHpkqi3CIfKKGNLH6ZSdbwM130_assertion wasDerivedFrom befree-20140225 NP615438.RA6rQFOSsRUtQKjqsSe0dyIHpkqi3CIfKKGNLH6ZSdbwM130_provenance.
- NP615438.RA6rQFOSsRUtQKjqsSe0dyIHpkqi3CIfKKGNLH6ZSdbwM130_assertion wasGeneratedBy ECO_0000203 NP615438.RA6rQFOSsRUtQKjqsSe0dyIHpkqi3CIfKKGNLH6ZSdbwM130_provenance.
- befree-20140225 importedOn "2014-02-25" NP615438.RA6rQFOSsRUtQKjqsSe0dyIHpkqi3CIfKKGNLH6ZSdbwM130_provenance.