Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP44022.RAI9Emwwycss7977dPblT8EXYaZp4V4GA7EX0WYbTdQhE130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP44022.RAI9Emwwycss7977dPblT8EXYaZp4V4GA7EX0WYbTdQhE130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP44022.RAI9Emwwycss7977dPblT8EXYaZp4V4GA7EX0WYbTdQhE130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP44022.RAI9Emwwycss7977dPblT8EXYaZp4V4GA7EX0WYbTdQhE130_provenance.
- NP44022.RAI9Emwwycss7977dPblT8EXYaZp4V4GA7EX0WYbTdQhE130_assertion description "[We performed mutational analysis on 164 infants with isolated, single-suture craniosynostosis for mutations in TWIST1, the IgIIIa exon of FGFR1, the IgIIIa and IgIIIc exons of FGFR2, and the Pro250Arg site of FGFR3.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP44022.RAI9Emwwycss7977dPblT8EXYaZp4V4GA7EX0WYbTdQhE130_provenance.
- NP44022.RAI9Emwwycss7977dPblT8EXYaZp4V4GA7EX0WYbTdQhE130_assertion evidence source_evidence_literature NP44022.RAI9Emwwycss7977dPblT8EXYaZp4V4GA7EX0WYbTdQhE130_provenance.
- NP44022.RAI9Emwwycss7977dPblT8EXYaZp4V4GA7EX0WYbTdQhE130_assertion SIO_000772 17343269 NP44022.RAI9Emwwycss7977dPblT8EXYaZp4V4GA7EX0WYbTdQhE130_provenance.
- NP44022.RAI9Emwwycss7977dPblT8EXYaZp4V4GA7EX0WYbTdQhE130_assertion wasDerivedFrom gad-20130706 NP44022.RAI9Emwwycss7977dPblT8EXYaZp4V4GA7EX0WYbTdQhE130_provenance.
- NP44022.RAI9Emwwycss7977dPblT8EXYaZp4V4GA7EX0WYbTdQhE130_assertion wasGeneratedBy ECO_0000203 NP44022.RAI9Emwwycss7977dPblT8EXYaZp4V4GA7EX0WYbTdQhE130_provenance.
- gad-20130706 importedOn "2013-07-06" NP44022.RAI9Emwwycss7977dPblT8EXYaZp4V4GA7EX0WYbTdQhE130_provenance.