Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP372769.RAlR6yvNfRBgHb2yW2YesFOU7fsumnHWbg2_qTD8KSOFM130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP372769.RAlR6yvNfRBgHb2yW2YesFOU7fsumnHWbg2_qTD8KSOFM130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP372769.RAlR6yvNfRBgHb2yW2YesFOU7fsumnHWbg2_qTD8KSOFM130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP372769.RAlR6yvNfRBgHb2yW2YesFOU7fsumnHWbg2_qTD8KSOFM130_provenance.
- NP372769.RAlR6yvNfRBgHb2yW2YesFOU7fsumnHWbg2_qTD8KSOFM130_assertion description "[We therefore screened the WAS gene in 14 young SCN males with wild-type ELA2 and identified 2 with novel mutations, one who presented with myelodysplasia (Ile294Thr) and the other with classic SCN (Ser270Pro).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP372769.RAlR6yvNfRBgHb2yW2YesFOU7fsumnHWbg2_qTD8KSOFM130_provenance.
- NP372769.RAlR6yvNfRBgHb2yW2YesFOU7fsumnHWbg2_qTD8KSOFM130_assertion evidence source_evidence_literature NP372769.RAlR6yvNfRBgHb2yW2YesFOU7fsumnHWbg2_qTD8KSOFM130_provenance.
- NP372769.RAlR6yvNfRBgHb2yW2YesFOU7fsumnHWbg2_qTD8KSOFM130_assertion SIO_000772 16804117 NP372769.RAlR6yvNfRBgHb2yW2YesFOU7fsumnHWbg2_qTD8KSOFM130_provenance.
- NP372769.RAlR6yvNfRBgHb2yW2YesFOU7fsumnHWbg2_qTD8KSOFM130_assertion wasDerivedFrom befree-20150227 NP372769.RAlR6yvNfRBgHb2yW2YesFOU7fsumnHWbg2_qTD8KSOFM130_provenance.
- NP372769.RAlR6yvNfRBgHb2yW2YesFOU7fsumnHWbg2_qTD8KSOFM130_assertion wasGeneratedBy ECO_0000203 NP372769.RAlR6yvNfRBgHb2yW2YesFOU7fsumnHWbg2_qTD8KSOFM130_provenance.
- befree-20150227 importedOn "2015-02-27" NP372769.RAlR6yvNfRBgHb2yW2YesFOU7fsumnHWbg2_qTD8KSOFM130_provenance.