Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP52194.RA0tU-aj71R85JDP4yTphJCuGk8R22yw9FnAhkWev5GzI130_assertion> ?p ?o ?g. }
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- NP52194.RA0tU-aj71R85JDP4yTphJCuGk8R22yw9FnAhkWev5GzI130_assertion type Assertion NP52194.RA0tU-aj71R85JDP4yTphJCuGk8R22yw9FnAhkWev5GzI130_head.
- NP52194.RA0tU-aj71R85JDP4yTphJCuGk8R22yw9FnAhkWev5GzI130_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." NP52194.RA0tU-aj71R85JDP4yTphJCuGk8R22yw9FnAhkWev5GzI130_provenance.
- NP52194.RA0tU-aj71R85JDP4yTphJCuGk8R22yw9FnAhkWev5GzI130_assertion evidence source_evidence_literature NP52194.RA0tU-aj71R85JDP4yTphJCuGk8R22yw9FnAhkWev5GzI130_provenance.
- NP52194.RA0tU-aj71R85JDP4yTphJCuGk8R22yw9FnAhkWev5GzI130_assertion SIO_000772 17343269 NP52194.RA0tU-aj71R85JDP4yTphJCuGk8R22yw9FnAhkWev5GzI130_provenance.
- NP52194.RA0tU-aj71R85JDP4yTphJCuGk8R22yw9FnAhkWev5GzI130_assertion wasDerivedFrom gad-20150221 NP52194.RA0tU-aj71R85JDP4yTphJCuGk8R22yw9FnAhkWev5GzI130_provenance.
- NP52194.RA0tU-aj71R85JDP4yTphJCuGk8R22yw9FnAhkWev5GzI130_assertion wasGeneratedBy ECO_0000203 NP52194.RA0tU-aj71R85JDP4yTphJCuGk8R22yw9FnAhkWev5GzI130_provenance.