Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP453764.RACWVP9XJYv-uiVHiHUnsh0i-Fil6NoAQz1cd0pUEa6QI130_assertion> ?p ?o ?g. }
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- NP453764.RACWVP9XJYv-uiVHiHUnsh0i-Fil6NoAQz1cd0pUEa6QI130_assertion type Assertion NP453764.RACWVP9XJYv-uiVHiHUnsh0i-Fil6NoAQz1cd0pUEa6QI130_head.
- NP453764.RACWVP9XJYv-uiVHiHUnsh0i-Fil6NoAQz1cd0pUEa6QI130_assertion wasGeneratedBy ECO_0000203 NP453764.RACWVP9XJYv-uiVHiHUnsh0i-Fil6NoAQz1cd0pUEa6QI130_provenance.
- NP453764.RACWVP9XJYv-uiVHiHUnsh0i-Fil6NoAQz1cd0pUEa6QI130_assertion wasDerivedFrom befree-2016 NP453764.RACWVP9XJYv-uiVHiHUnsh0i-Fil6NoAQz1cd0pUEa6QI130_provenance.
- NP453764.RACWVP9XJYv-uiVHiHUnsh0i-Fil6NoAQz1cd0pUEa6QI130_assertion SIO_000772 15282208 NP453764.RACWVP9XJYv-uiVHiHUnsh0i-Fil6NoAQz1cd0pUEa6QI130_provenance.
- NP453764.RACWVP9XJYv-uiVHiHUnsh0i-Fil6NoAQz1cd0pUEa6QI130_assertion evidence source_evidence_literature NP453764.RACWVP9XJYv-uiVHiHUnsh0i-Fil6NoAQz1cd0pUEa6QI130_provenance.
- NP453764.RACWVP9XJYv-uiVHiHUnsh0i-Fil6NoAQz1cd0pUEa6QI130_assertion description "[Gain-of-function missense mutations in FGF receptor 2 (FGFR2) are responsible for a variety of craniosynostosis syndromes including Apert syndrome (AS), Pfeiffer syndrome (PS) and Crouzon syndrome (CS).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP453764.RACWVP9XJYv-uiVHiHUnsh0i-Fil6NoAQz1cd0pUEa6QI130_provenance.