Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP459697.RAknm0JKBs_CQF7QLOV_xSRHvfAWrAggcHY7rk6lzgoN8130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP459697.RAknm0JKBs_CQF7QLOV_xSRHvfAWrAggcHY7rk6lzgoN8130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP459697.RAknm0JKBs_CQF7QLOV_xSRHvfAWrAggcHY7rk6lzgoN8130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP459697.RAknm0JKBs_CQF7QLOV_xSRHvfAWrAggcHY7rk6lzgoN8130_provenance.
- NP459697.RAknm0JKBs_CQF7QLOV_xSRHvfAWrAggcHY7rk6lzgoN8130_assertion description "[Molecular analysis of the reciprocal chromosomal translocation t(12;22)(p11.2;q13.3) cosegregating with a complex type of synpolydactyly showed involvement of an alternatively spliced exon of the fibulin-1 gene (FBLN1 located in 22q13.3) and the C12orf2 (HoJ-1) gene on the short arm of chromosome 12.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP459697.RAknm0JKBs_CQF7QLOV_xSRHvfAWrAggcHY7rk6lzgoN8130_provenance.
- NP459697.RAknm0JKBs_CQF7QLOV_xSRHvfAWrAggcHY7rk6lzgoN8130_assertion evidence source_evidence_literature NP459697.RAknm0JKBs_CQF7QLOV_xSRHvfAWrAggcHY7rk6lzgoN8130_provenance.
- NP459697.RAknm0JKBs_CQF7QLOV_xSRHvfAWrAggcHY7rk6lzgoN8130_assertion SIO_000772 11836357 NP459697.RAknm0JKBs_CQF7QLOV_xSRHvfAWrAggcHY7rk6lzgoN8130_provenance.
- NP459697.RAknm0JKBs_CQF7QLOV_xSRHvfAWrAggcHY7rk6lzgoN8130_assertion wasDerivedFrom befree-20140225 NP459697.RAknm0JKBs_CQF7QLOV_xSRHvfAWrAggcHY7rk6lzgoN8130_provenance.
- NP459697.RAknm0JKBs_CQF7QLOV_xSRHvfAWrAggcHY7rk6lzgoN8130_assertion wasGeneratedBy ECO_0000203 NP459697.RAknm0JKBs_CQF7QLOV_xSRHvfAWrAggcHY7rk6lzgoN8130_provenance.
- befree-20140225 importedOn "2014-02-25" NP459697.RAknm0JKBs_CQF7QLOV_xSRHvfAWrAggcHY7rk6lzgoN8130_provenance.