Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP1365325.RAreK4jZOxI3cdyoLRxRY5U7o0HfDKYigniLGiDkIApYY130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP1365325.RAreK4jZOxI3cdyoLRxRY5U7o0HfDKYigniLGiDkIApYY130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP1365325.RAreK4jZOxI3cdyoLRxRY5U7o0HfDKYigniLGiDkIApYY130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP1365325.RAreK4jZOxI3cdyoLRxRY5U7o0HfDKYigniLGiDkIApYY130_provenance.
- befree-2016 importedOn "2016-02-19" NP1365325.RAreK4jZOxI3cdyoLRxRY5U7o0HfDKYigniLGiDkIApYY130_provenance.
- NP1365325.RAreK4jZOxI3cdyoLRxRY5U7o0HfDKYigniLGiDkIApYY130_assertion wasGeneratedBy ECO_0000203 NP1365325.RAreK4jZOxI3cdyoLRxRY5U7o0HfDKYigniLGiDkIApYY130_provenance.
- NP1365325.RAreK4jZOxI3cdyoLRxRY5U7o0HfDKYigniLGiDkIApYY130_assertion wasDerivedFrom befree-2016 NP1365325.RAreK4jZOxI3cdyoLRxRY5U7o0HfDKYigniLGiDkIApYY130_provenance.
- NP1365325.RAreK4jZOxI3cdyoLRxRY5U7o0HfDKYigniLGiDkIApYY130_assertion SIO_000772 8988167 NP1365325.RAreK4jZOxI3cdyoLRxRY5U7o0HfDKYigniLGiDkIApYY130_provenance.
- NP1365325.RAreK4jZOxI3cdyoLRxRY5U7o0HfDKYigniLGiDkIApYY130_assertion evidence source_evidence_literature NP1365325.RAreK4jZOxI3cdyoLRxRY5U7o0HfDKYigniLGiDkIApYY130_provenance.
- NP1365325.RAreK4jZOxI3cdyoLRxRY5U7o0HfDKYigniLGiDkIApYY130_assertion description "[Here, we report 21-bp insertions and nonsense mutations of the TWIST gene (S127X, E130X) in seven ACS III probands and describe impairment of head mesenchyme induction by TWIST as a novel pathophysiological mechanism in human craniosynostoses.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1365325.RAreK4jZOxI3cdyoLRxRY5U7o0HfDKYigniLGiDkIApYY130_provenance.