Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP467482.RAGCz02BLogYGLd1Qo9yzODYgdL_AK6gDQjLvvijC8jrQ130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP467482.RAGCz02BLogYGLd1Qo9yzODYgdL_AK6gDQjLvvijC8jrQ130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP467482.RAGCz02BLogYGLd1Qo9yzODYgdL_AK6gDQjLvvijC8jrQ130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP467482.RAGCz02BLogYGLd1Qo9yzODYgdL_AK6gDQjLvvijC8jrQ130_provenance.
- NP467482.RAGCz02BLogYGLd1Qo9yzODYgdL_AK6gDQjLvvijC8jrQ130_assertion description "[We found that a patient with infantile CACH/VWM carries a mutation in the acceptor splice site of EIF2B5 exon 6.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP467482.RAGCz02BLogYGLd1Qo9yzODYgdL_AK6gDQjLvvijC8jrQ130_provenance.
- NP467482.RAGCz02BLogYGLd1Qo9yzODYgdL_AK6gDQjLvvijC8jrQ130_assertion evidence source_evidence_literature NP467482.RAGCz02BLogYGLd1Qo9yzODYgdL_AK6gDQjLvvijC8jrQ130_provenance.
- NP467482.RAGCz02BLogYGLd1Qo9yzODYgdL_AK6gDQjLvvijC8jrQ130_assertion SIO_000772 18294360 NP467482.RAGCz02BLogYGLd1Qo9yzODYgdL_AK6gDQjLvvijC8jrQ130_provenance.
- NP467482.RAGCz02BLogYGLd1Qo9yzODYgdL_AK6gDQjLvvijC8jrQ130_assertion wasDerivedFrom befree-20140225 NP467482.RAGCz02BLogYGLd1Qo9yzODYgdL_AK6gDQjLvvijC8jrQ130_provenance.
- NP467482.RAGCz02BLogYGLd1Qo9yzODYgdL_AK6gDQjLvvijC8jrQ130_assertion wasGeneratedBy ECO_0000203 NP467482.RAGCz02BLogYGLd1Qo9yzODYgdL_AK6gDQjLvvijC8jrQ130_provenance.
- befree-20140225 importedOn "2014-02-25" NP467482.RAGCz02BLogYGLd1Qo9yzODYgdL_AK6gDQjLvvijC8jrQ130_provenance.