Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP852892.RAUsYqzT4RVYzx76gAE2Mw0N2pZsrMpCDbaCuyAk1YJ8Q130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP852892.RAUsYqzT4RVYzx76gAE2Mw0N2pZsrMpCDbaCuyAk1YJ8Q130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP852892.RAUsYqzT4RVYzx76gAE2Mw0N2pZsrMpCDbaCuyAk1YJ8Q130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP852892.RAUsYqzT4RVYzx76gAE2Mw0N2pZsrMpCDbaCuyAk1YJ8Q130_provenance.
- NP852892.RAUsYqzT4RVYzx76gAE2Mw0N2pZsrMpCDbaCuyAk1YJ8Q130_assertion description "[The most common genetic mutations identified in syndromic craniosynostosis involve the fibroblast growth factor receptor (FGFR) family with other mutations occurring in genes for transcription factors TWIST, MSX2, and GLI3, and other proteins EFNB1, RAB23, RECQL4, and POR, presumed to be involved either upstream or downstream of the FGFR signaling pathway.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP852892.RAUsYqzT4RVYzx76gAE2Mw0N2pZsrMpCDbaCuyAk1YJ8Q130_provenance.
- NP852892.RAUsYqzT4RVYzx76gAE2Mw0N2pZsrMpCDbaCuyAk1YJ8Q130_assertion evidence source_evidence_literature NP852892.RAUsYqzT4RVYzx76gAE2Mw0N2pZsrMpCDbaCuyAk1YJ8Q130_provenance.
- NP852892.RAUsYqzT4RVYzx76gAE2Mw0N2pZsrMpCDbaCuyAk1YJ8Q130_assertion SIO_000772 21082653 NP852892.RAUsYqzT4RVYzx76gAE2Mw0N2pZsrMpCDbaCuyAk1YJ8Q130_provenance.
- NP852892.RAUsYqzT4RVYzx76gAE2Mw0N2pZsrMpCDbaCuyAk1YJ8Q130_assertion wasDerivedFrom befree-2016 NP852892.RAUsYqzT4RVYzx76gAE2Mw0N2pZsrMpCDbaCuyAk1YJ8Q130_provenance.
- NP852892.RAUsYqzT4RVYzx76gAE2Mw0N2pZsrMpCDbaCuyAk1YJ8Q130_assertion wasGeneratedBy ECO_0000203 NP852892.RAUsYqzT4RVYzx76gAE2Mw0N2pZsrMpCDbaCuyAk1YJ8Q130_provenance.
- befree-2016 importedOn "2016-02-19" NP852892.RAUsYqzT4RVYzx76gAE2Mw0N2pZsrMpCDbaCuyAk1YJ8Q130_provenance.