Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP401257.RAbZJMTmQ8vZ7OyG_irm3e6SyiQcwvdK-Nf8kboYyLa_Q130_assertion> ?p ?o ?g. }
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- NP401257.RAbZJMTmQ8vZ7OyG_irm3e6SyiQcwvdK-Nf8kboYyLa_Q130_assertion type Assertion NP401257.RAbZJMTmQ8vZ7OyG_irm3e6SyiQcwvdK-Nf8kboYyLa_Q130_head.
- NP401257.RAbZJMTmQ8vZ7OyG_irm3e6SyiQcwvdK-Nf8kboYyLa_Q130_assertion description "[Muenke syndrome is an autosomal dominant craniosynostosis syndrome resulting from a defining point mutation in the Fibroblast Growth Factor Receptor3 (FGFR3) gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP401257.RAbZJMTmQ8vZ7OyG_irm3e6SyiQcwvdK-Nf8kboYyLa_Q130_provenance.
- NP401257.RAbZJMTmQ8vZ7OyG_irm3e6SyiQcwvdK-Nf8kboYyLa_Q130_assertion evidence source_evidence_literature NP401257.RAbZJMTmQ8vZ7OyG_irm3e6SyiQcwvdK-Nf8kboYyLa_Q130_provenance.
- NP401257.RAbZJMTmQ8vZ7OyG_irm3e6SyiQcwvdK-Nf8kboYyLa_Q130_assertion SIO_000772 23378035 NP401257.RAbZJMTmQ8vZ7OyG_irm3e6SyiQcwvdK-Nf8kboYyLa_Q130_provenance.
- NP401257.RAbZJMTmQ8vZ7OyG_irm3e6SyiQcwvdK-Nf8kboYyLa_Q130_assertion wasDerivedFrom befree-20150227 NP401257.RAbZJMTmQ8vZ7OyG_irm3e6SyiQcwvdK-Nf8kboYyLa_Q130_provenance.
- NP401257.RAbZJMTmQ8vZ7OyG_irm3e6SyiQcwvdK-Nf8kboYyLa_Q130_assertion wasGeneratedBy ECO_0000203 NP401257.RAbZJMTmQ8vZ7OyG_irm3e6SyiQcwvdK-Nf8kboYyLa_Q130_provenance.